Raras
Buscar doenças, sintomas, genes...
Síndrome de hipomielinização-catarata congênita
ORPHA:85163CID-10 · G37.8OMIM 610532DOENÇA RARA

A condição "Catarata Congênita e Hipomielinização" é caracterizada pelo surgimento de catarata ao nascer ou nos primeiros dois meses de vida. Além disso, há um atraso no desenvolvimento psicomotor (das habilidades de movimento e raciocínio) até o final do primeiro ano de vida, e uma dificuldade intelectual moderada.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A condição "Catarata Congênita e Hipomielinização" é caracterizada pelo surgimento de catarata ao nascer ou nos primeiros dois meses de vida. Além disso, há um atraso no desenvolvimento psicomotor (das habilidades de movimento e raciocínio) até o final do primeiro ano de vida, e uma dificuldade intelectual moderada.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
10
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: RS, PR, SC, PA, PE +10CID-10: G37.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (2)
0202010694
Sequenciamento completo do exoma (WES)genetic_test
0301070040
Atendimento em reabilitação — doenças rarasrehabilitation
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
13 sintomas
🦴
Ossos e articulações
2 sintomas
💪
Músculos
2 sintomas

+ 13 sintomas em outras categorias

Características mais comuns

100%prev.
Catarata do desenvolvimento
Muito frequente (99-80%)
100%prev.
Atraso global do desenvolvimento
Muito frequente (99-80%)
100%prev.
Sinal de Babinski
Frequência: 10/10
100%prev.
Deficiência intelectual
Frequência: 10/10
100%prev.
Hipotonia axial
Frequência: 10/10
100%prev.
Hipomielinização do SNC
Frequência: 10/10
30sintomas
Muito frequente (20)
Frequente (6)
Sem dados (4)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 30 características clínicas mais associadas, ordenadas por frequência.

Catarata do desenvolvimentoDevelopmental cataract
Muito frequente (99-80%)100%
Atraso global do desenvolvimentoGlobal developmental delay
Muito frequente (99-80%)100%
Sinal de BabinskiBabinski sign
Frequência: 10/10100%
Deficiência intelectualIntellectual disability
Frequência: 10/10100%
Hipotonia axialAxial hypotonia
Frequência: 10/10100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2025114 papers
Linha do tempo
2026Hoje · 2026🧪 2016Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.

HYCC1HyccinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:26571211). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (PubMed:26571211). HYCC1 plays a key role in oligodendrocytes formation, a cell type with expanded plasma membrane that requires generation of PtdIns(4)P (PubMed:26571211). Its role in oligodendrocytes formation probably explains its importance in myelination of the central and periphe

LOCALIZAÇÃO

Cytoplasm, cytosolCell membrane

MECANISMO DE DOENÇA

Leukodystrophy, hypomyelinating, 5

A hypomyelinating leukodystrophy associated with congenital cataract. It is clinically characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailingly in the lower limbs. Mental deficiency ranges from mild to moderate. HLD5 shows clinical variability, but features of hypomyelination combined with increased periventricular white matter water content are consistently observed.

OUTRAS DOENÇAS (1)
hypomyelinating leukodystrophy 5
HGNC:24587UniProt:Q9BYI3

Variantes genéticas (ClinVar)

62 variantes patogênicas registradas no ClinVar.

🧬 HYCC1: GRCh37/hg19 7p22.3-14.3(chr7:158725-29918785)x3 ()
🧬 HYCC1: GRCh37/hg19 7p21.1-15.3(chr7:18093509-25363633)x1 ()
🧬 HYCC1: GRCh37/hg19 7p21.2-15.2(chr7:16417575-27541028)x3 ()
🧬 HYCC1: NM_032581.4(HYCC1):c.1176del (p.Glu393fs) ()
🧬 HYCC1: NM_032581.4(HYCC1):c.175del (p.Gln59fs) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 2 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome de hipomielinização-catarata congênita

Centros de Referência SUS

24 centros habilitados pelo SUS para Síndrome de hipomielinização-catarata congênita

Centros para Síndrome de hipomielinização-catarata congênita

Detalhes dos centros

Hospital Universitário Prof. Edgard Santos (HUPES)

R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFG

Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Base de São José do Rio Preto

Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

0 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.

European journal of neurology2026 Mar

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an extremely rare autosomal recessive disease caused by variants in the thymidine phosphorylase gene (TYMP), primarily characterized by severe gastrointestinal and neurological symptoms. The complete phenotype of MNGIE has not been linked to any gene other than TYMP. We describe two identical twins who exhibited delayed psychomotor development, infantile bilateral cataract, congenital demyelinating polyneuropathy, and severe progressive gastrointestinal dysmotility with recurrent pseudo-obstruction episodes, along with diffuse supratentorial leukoencephalopathy that mainly overlaps with classic TYMP-related MNGIE. During the course of the disease, one patient developed Wernicke encephalopathy, triggered by chronic malnutrition related to recurrent gastrointestinal pseudo-obstruction. This patient later suffered from a catastrophic stroke-like episode, resulting in massive cerebral edema and brain death at the age of 38. Next-generation sequencing (NGS) using a custom-targeted mitochondrial gene panel identified two compound heterozygous variants in the POLG gene: the paternal variants p.Thr251Ile and p.Pro587Leu, occurring in cis, and the novel maternal variant p.Arg853Gly. Quantification of mtDNA by real-time PCR on skeletal muscle DNA detected significant depletion, but no multiple deletions were detected with mtDNA analysis by long-range PCR and Nanopore sequencing. These cases showed a very distinctive POLG phenotype, with some MNGIE-like features, expanding the clinical and genetic spectrum of the POLG-related diseases. Additionally, they highlighted the importance of monitoring for thiamine deficiency in mitochondrial patients with severe gastrointestinal dysmotility who experience sudden clinical deterioration.

#2

Left-Right Determination Factor 2 (LEFTY2) Is an Aqueous Humor Biomarker for Exfoliation Glaucoma.

Translational vision science &amp; technology2026 Mar 02

Exfoliation syndrome (XFS) is characterized by deposition of exfoliation material (XFM) in the anterior segment. XFM contributes to development of exfoliation glaucoma (XFG). Here, we evaluated left-right determination factor 2 (LEFTY2), a TGFβ superfamily protein, as an XFS and XFG biomarker. Aqueous humor (AH) and/or blood was collected from patients undergoing cataract surgery. Controls included patients with cataracts (CAT; AH, n = 78; blood, n = 20) or cataracts and primary open-angle glaucoma (CAT/GL; AH, n = 67; blood, n = 20). Affected groups included patients with cataracts and XFS (AH, n = 32; blood, n = 2) or cataracts and XFG (AH, n = 42; blood, n = 19). LEFTY2 concentration was measured by ELISA. To test if LEFTY2 is TGFβ responsive, human trabecular meshwork (HTM) cell cultures were treated with TGFβ1-3, and LEFTY2 expression was quantified by real-time quantitative PCR or ELISA. AH LEFTY2 concentrations were significantly elevated in XFG patients (27.23 ± 45.39 ng/mL) versus controls (CAT: 1.19 ± 0.72 ng/mL, P < 0.0001; CAT/GL: 1.68 ± 1.81 ng/mL, P < 0.0001). ROC analyses indicated that LEFTY2 is a good AH biomarker for XFG (CAT vs. XFG, AUC = 0.87; P < 0.0001). LEFTY2 AH levels were highest in eyes judged to have the heaviest XFM deposits (ρ = 0.341, P = 0.0054). Plasma LEFTY2 levels did not correlate with disease status or ocular LEFTY2 levels. TGFβ treatment significantly increased LEFTY2 expression in HTM cells. LEFTY2 is a promising AH biomarker for XFG. Its clinical value may be limited by accessibility, OD/OS discordance, and interpatient variability. Its role in XFG pathogenesis requires further study. Identification of biomarkers for XFG may improve early detection and treatment.

#3

Study protocol for a randomised controlled trial to evaluate the prophylactic efficacy of combined intense pulsed light (IPL) and low-level light therapy (LLLT) in preventing laser corneal refractive surgery-induced dry eye: the Treat Eye Before Laser induced Dry (TEBeLiD) study.

BMJ open2026 Feb 26

Laser corneal refractive surgery is a widely adopted approach for correcting refractive errors, but postoperative dry eye remains a common side effect. Intense pulsed light (IPL) and low-level light therapy (LLLT) are two emerging treatments that have shown potential in managing dry eye disease. However, their role as a prophylactic treatment in patients without pre-existing symptomatic dry eye undergoing refractive surgery has not been explored. This is a single-blind, randomised controlled trial comparing the prophylactic efficacy of combined IPL and LLLT treatment versus standard care in preventing dry eye after laser corneal refractive surgery (FS-LASIK, SMILE or PRK). Eligible patients aged 18 or older scheduled for surgery will be randomly assigned in a 1:1 ratio to either the treatment or control group. The primary endpoint is the French version of Ocular Surface Disease Index score at 1 month postoperatively. Secondary outcomes include Fluorescein Break-Up Time, Schirmer I test, Oxford score and Meibomian Gland Dropout. Data will be analysed using a mixed-effects linear model adjusted for surgery type and baseline dry eye parameters. The study started in June 2023 and end in April 2025 but data have not been yet analysed. The study has been approved by the Institutional Review Board Est III, France, and registered on ClinicalTrials.gov (NCT05803798). All participants will provide written informed consent. Results will be disseminated through peer-reviewed publications and presentations at scientific conferences. NCT05803798.

#4

WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated Cardiomyopathy.

Clinical genetics2026 Feb 19

Pediatric dilated cardiomyopathy (DCM) carries high morbidity and mortality, with up to half of cases genetically unexplained. The mTORC1 nutrient sensing pathway is a critical regulator of cardiomyocyte homeostasis, yet no Mendelian DCM genes have been linked to its upstream regulator, GATOR2. WDR59 encodes a core WD-repeat subunit of GATOR2, but its cardiac role is unknown. We recruited six affected individuals from four unrelated families presenting with early-onset, severe autosomal recessive syndromic DCM. Affected children developed left ventricular dilation, variably accompanied by cataracts, dysmorphic facial features, and growth and developmental delay. Saudi patients mapped to a single locus and shared therein a homozygous founder WDR59 variant: c.2887G>A (p.Gly963Arg). The French patient was compound heterozygous for two variants (NM_030581.4:c.966+3A>G and NM_030581.4:c.886+1219T>G) and their deleterious splicing effect was confirmed by RNA-seq. We propose WDR59 as a novel autosomal recessive DCM gene and implicate dysregulated GATOR2-mTORC1 signaling as the underlying mechanism. Future validation is needed to confirm this link and investigate whether restoring mTORC1-autophagy balance can ameliorate WDR59-related cardiac dysfunction. AFF4-related CHOPS syndrome is characterized by coarse facial features / cognitive impairment, heart defects, obesity, pulmonary involvement, and short stature / skeletal abnormalities. All individuals reported to date have mild-to-moderate developmental delay and intellectual disability without regression. Neurobehavioral features include disruptive and self-absorbed behaviors, communication disturbance, and food-seeking behaviors leading to obesity. Characteristic facial features include synophrys, highly arched eyebrows, long eyelashes, proptosis, and anteverted nares. Coarse facies and round face with full cheeks become more noticeable with age. Other common features include growth deficiency, respiratory issues, congenital heart defects, small hands, brachydactyly, ocular abnormalities, genitourinary abnormalities, and gastrointestinal manifestations. The diagnosis of AFF4-related CHOPS syndrome is established in a proband with suggestive clinical findings and a heterozygous pathogenic variant in AFF4 identified by molecular genetic testing. To date, all CHOPS-related pathogenic variants are located in the AFF4 ALF homology domain. Treatment of manifestations: Developmental and educational support; feeding therapy; gastrostomy tube placement as needed; nutritional management for obesity; standard treatments for chronic lung disease and sleep apnea; standard vaccinations; tracheostomy as needed for laryngomalacia; standard treatment for congenital heart defects and vertebral anomalies; treatment of refractive errors and strabismus per ophthalmologist; treatment of cataract per ophthalmic subspecialist; hearing aids as needed for hearing loss; standard treatment of genitourinary anomalies and bowel dysfunction; transitional care plan by age ten years; social work and family support. Surveillance: Assess developmental progress, educational needs, behavior issues, growth, evidence of aspiration or respiratory insufficiency, musculoskeletal manifestations, nutritional status, safety of oral intake, gastrointestinal manifestations, and family needs at each visit. Assess for myopia and strabismus per ophthalmologist and at least annually; annual audiology evaluation. AFF4-related CHOPS syndrome is an autosomal dominant disorder. All probands reported to date with AFF4-related CHOPS syndrome whose parents have undergone molecular genetic testing have the disorder as the result of a de novo pathogenic variant. Risk to the parents of the proband of having another affected pregnancy is presumed to be low for the parents of the proband as the proband most likely has a de novo AFF4 pathogenic variant. There is, however, a recurrence risk (~1%) to sibs based on the possibility of parental gonadal mosaicism. Given this risk, prenatal and preimplantation genetic testing may be considered.

#5

Case Report: Sengers syndrome caused by a novel 7.6 kb AGK deletion misdiagnosed as isolated congenital cataract.

Frontiers in pediatrics2026

The diagnosis of Sengers syndrome, a rare mitochondrial disorder, is often challenged by phenotypic mimicry. We report a diagnostically instructive case of a 4-month-old female who presented with the classic triad of congenital cataracts, hypertrophic cardiomyopathy, and lactic acidosis. Initial whole-exome sequencing (WES) was confounded by the finding of a heterozygous variant in CRYBA2 and only a single heterozygous nonsense mutation in AGK (c.409C>T, p.Arg137*). The persistence of a multisystemic phenotype inconsistent with an isolated cataract disorder prompted further investigation. Copy number variation (CNV) analysis of the WES data revealed a large heterozygous deletion in AGK, which breakpoint-specific polymerase chain reaction and Sanger sequencing precisely characterized as a novel 7.6 kb deletion (chr7:141297542-141305156). This confirmed compound heterozygosity, yielding a definitive diagnosis of Sengers syndrome and reclassifying the CRYBA2 variant as incidental. Crucially, breakpoint analysis indicated a non-Alu-mediated mechanism for the deletion. This case highlights the critical importance of CNV analysis in resolving genetically ambiguous autosomal recessive cases and provides novel insight into the structural mutational landscape of AGK.

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Frontiers in ophthalmology
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Prevalence and associated factors of pseudoexfoliation syndrome among cataract patients attending comprehensive specialized hospitals in Northwest Ethiopia.

Scientific reports
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Isocenter Optimization in WBRT: Concurrent Sparing of Lens and Lacrimal Gland via Anterior Penumbra Sharpening.

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Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.

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Accidental Entry of Ointment in Anterior Chamber Postcataract Surgery: A Clinical Conundrum.

Annals of African medicine
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Immunomodulation of the Ocular Surface in Severe Dry Eye Disease: Expert-Driven Literature Review on Treatment Strategies with Description of Representative Challenging Cases.

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Anaesthethic management on a pediatric patient with Sengers syndrome. Case report.

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Impact of Metabolic Syndrome on Cataracts: A Systematic Review and Meta-Analysis.

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Nebular Cortical Cataract in Stickler Syndrome.

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Genetic analysis and clinical characteristics of sporadic and familial congenital cataracts in southern Chinese families.

Frontiers in genetics
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François Pourfour du Petit (1664-1741): a pioneer in experimental medicine.

Acta neurochirurgica
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Adverse Events and Intraocular Pressure-Lowering Effect of Topical 0.5% Apraclonidine in Childhood Glaucoma: A Retrospective Single-Center Study.

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Oculoskeletodental syndrome: expansion and review of the clinical and molecular phenotype.

Clinical dysmorphology
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Systemic metastatic retinal lymphoma masquerading as granulomatous uveitis.

GMS ophthalmology cases
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Predictive value of biochemical markers CRP, WBC, and total cholesterol for postoperative dry eye syndrome following phacoemulsification cataract surgery.

Journal of medical biochemistry
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A Newborn With Down-Klinefelter Syndrome and Bilateral Congenital Cataracts Harboring a Novel MAPKAPK3 Mutation.

Journal of vitreoretinal diseases
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Left-Right Determination Factor 2 (LEFTY2) Is an Aqueous Humor Biomarker for Exfoliation Glaucoma.

Translational vision science &amp; technology
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Bilateral Diffuse Uveal Melanocytic Proliferation Masquerading as Refractory Subretinal Fluid Due to Peripapillary Pachychoroid Syndrome.

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Cataract surgery outcomes in pseudoexfoliation syndrome: a large multicenter database study.

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Refractive Changes Associated With Pediatric Kidney Transplantation.

Pediatric transplantation
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Advances and Challenges in Sulcus-Implanted Intraocular Lenses: A Comprehensive Narrative Review.

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Varicella-Zoster Virus and the Eye: Clinical Spectrum, Management, and Vaccination.

Pathogens (Basel, Switzerland)
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The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.

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Study protocol for a randomised controlled trial to evaluate the prophylactic efficacy of combined intense pulsed light (IPL) and low-level light therapy (LLLT) in preventing laser corneal refractive surgery-induced dry eye: the Treat Eye Before Laser induced Dry (TEBeLiD) study.

BMJ open
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The link between caveolae, metabolic syndrome, and cataractogenesis: A mechanistic hypothesis.

Experimental eye research
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Novel Biallelic LIG3 Mutations Causing Lethal Phenotype With Immunodeficiency.

American journal of medical genetics. Part A
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Oculo-auricular syndrome caused by a novel HMX1 frameshift variant: a case report.

Ophthalmic genetics
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Complications after radiotherapy in patients with Graves' orbitopathy: A nationwide cohort study.

Eye (London, England)
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WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated Cardiomyopathy.

Clinical genetics
2026

Novel ocular feature in oculoskeletodental syndrome: high axial myopia and megalocornea in a child with a homozygous PIK3C2A variant.

Ophthalmic genetics
2026

In-the-Bag Uveitis-Glaucoma-Hyphema Syndrome with Iris Chafing: Anterior Segment OCT.

Journal of cataract and refractive surgery
2026

Case Report: Sengers syndrome caused by a novel 7.6 kb AGK deletion misdiagnosed as isolated congenital cataract.

Frontiers in pediatrics
2026

Cytokines in patients with Posner-Schlossman syndrome.

Frontiers in immunology
2026

Study on the relationship between bacterial endotoxin and the onset of toxic anterior segment syndrome.

Journal of cataract and refractive surgery
2026

Optimizing Autologous Serum Tear Therapy for Dry Eye Disease: Strategies and Innovations.

Journal of clinical medicine
2026

Expanding the clinical and immunological phenotypes of COPB1 deficiency.

Frontiers in immunology
2026

Wedge-Shaped Lamellar Cataract in Stickler Syndrome Type I.

Journal of cataract and refractive surgery
2026

Comparison of serum iron, zinc and magnesium levels in pseudoexfoliation syndrome and pseudoexfoliation glaucoma: a case-control study.

BMC ophthalmology
2026

Hyper-reflective Dots and Curl in True Exfoliation Syndrome.

Journal of cataract and refractive surgery
2026

Genetic Variants in Genes Regulating Lens Epithelial Cell Homeostasis in Dead Bag Syndrome - Part 2.

Journal of cataract and refractive surgery
2025

[Genetic analysis of a child with Oculo-facio-cardio-dental syndrome due to a deletional variant of BCOR gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2026

Clinical application of dynamic visual acuity for detection of eye diseases: a scoping review protocol.

BMJ open
2026

Sex-Related Effects on the Clinical Presentation of Uveitis.

American journal of ophthalmology
2026

Refractive Growth in Marfan Syndrome Patients with Ectopia Lentis After Intraocular Lens Implantation.

Journal of cataract and refractive surgery
2026

Association between systemic inflammatory response index and risk of cataract in patients with cardiometabolic syndrome: A cross sectional study based on NHANES.

Medicine
2026

Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant.

Klinische Padiatrie
2026

Progressive neuroinflammation and deficits in motor function in a mouse model with an Epg5 pathogenic variant of Vici syndrome.

Experimental &amp; molecular medicine
2026

Epidemiology, biometric features and risk factors of pseudoexfoliation syndrome among cataract patients: a hospital-based study in Apulia.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2026

Ocular health in outer space and beyond gravity: A minireview.

World journal of clinical cases
2026

Clinical spectrum of extreme insulin resistance syndromes treated with rhIGF-1: a single centre experience.

The Journal of clinical endocrinology and metabolism
2026

Impact of Dry Eye Disease and Lipid-Containing Artificial Tears on Keratometric Reproducibility and Intraocular Lens Calculation in Cataract Patients.

Medicina (Kaunas, Lithuania)
2025

Neovascular glaucoma masked by cerebral hyperperfusion syndrome following carotid artery stent placement: illustrative case.

Journal of neurosurgery. Case lessons
2026

Medical management of post-phacoemulsification uveal effusion in nanophthalmos: A case report.

American journal of ophthalmology case reports
2026

Efficacy of anti-VEGF therapy for Irvine-Gass syndrome: a systematic review and meta-analysis.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2026

Comparison of clinical and inflammatory markers for dry eye disease following phacoemulsification and manual small incision cataract surgery (MSICS).

Scientific reports
2026

Paediatric Presentations of Early-Onset Glaucoma and Stickler Syndrome: A Case Series.

Case reports in ophthalmology
2026

Malabsorption Syndromes and Risk of Age-Related Macular Degeneration.

Ophthalmology. Retina
2025

The CTDP1 Founder Variant in CCFDN: Insights into Pathogenesis, Phenotypic Spectrum and Therapeutic Approaches.

International journal of molecular sciences
2026

Sweet poison for the eyes: High-Fructose diets as drivers of metabolic disruption and ocular diseases - Insights and therapeutic horizons.

Experimental eye research
2026

Bilateral congenital glaucoma in a child with Nicolaides-Baraitser syndrome: a case report.

Annals of medicine and surgery (2012)
2026

Surgical approach to ocular complications of Marfan syndrome.

Current opinion in ophthalmology
2025

Plaque Brachytherapy for DICER1-Associated Ciliary Body Medulloepithelioma.

Journal of current ophthalmology
2025

Late Reverse Pupillary Block After Scleral Fixation With Yamane Technique: A Case Report.

Case reports in ophthalmological medicine
2025

Marinesco-Sjögren Syndrome: A Novel SIL1 Variant with In Silico Analysis and Review of the Literature.

Life (Basel, Switzerland)
2025

Plant-Based Care and Therapy in Ophthalmology.

Antioxidants (Basel, Switzerland)
2025

Progeroid Syndrome with Signs of Autophagy Dysfunction in the Naked Mole Rat (Heterocephalus glaber).

Biochemistry. Biokhimiia
2025

Correlations between amyloid-β peptide levels in aqueous humor and retinal thickness in patients with glaucoma.

Scientific reports
2025

Autoimmune thyroid disease and human health: a systematic review of Mendelian randomization studies.

Frontiers in immunology
2025

Biallelic null RAB3GAP1 variants impair cortical development and autophagy in Warburg Micro syndrome: evidence from fetal brain tissue and patient fibroblasts.

Acta neuropathologica communications
2025

Quantitative evaluation of trabecular meshwork pigmentation in unilateral Fuchs uveitis syndrome.

BMC ophthalmology
2025

P10 Treatment-refractory psoriasiform dermatitis resulting from a rare genetic alteration in MSMO1 with marked improvement with combined cholesterol and statin use.

The British journal of dermatology
2025

Identification and Prenatal Evaluation of Suspected Congenital Cataracts: Three Very Different Cases.

Journal of clinical ultrasound : JCU
2025

[How do I explore: corneal melting after cataract surgery ?].

Revue medicale de Liege
2025

Efficacy and safety evaluation of phacoemulsification with intraocular lens implantation combined with goniotomy versus combined with trabeculectomy in advanced pseudoexfoliative glaucoma with cataract.

BMC ophthalmology
2025

Ipsilateral, Nonrotational Autokeratoplasty (INRA) Enabling Cataract Surgery in Eyes With Severe Ocular Surface Disease and Corneal Opacity.

Cornea
2025

A Novel SIL1 Variant (p.E342K) Associated with Marinesco-Sjögren Syndrome Impairs Protein Stability and Function.

International journal of molecular sciences
2025

Comparative purity of trypan blue solutions: Impurity profiles and their clinical implications.

Journal of cataract and refractive surgery
2025

Zonular compromise: A narrative review of indicators and management strategies.

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society
2026

Outcomes of Four-Point Sutured Scleral-Fixated Intraocular Lens Implantation Using Gore-Tex Suture in Paediatric Eyes.

Clinical &amp; experimental ophthalmology
2026

Ophthalmic complications of radiotherapy.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2025

Systematic Phenotyping and Molecular Analysis of the Woozy Mouse: A Preclinical Model of Cerebellar Ataxia.

Molecular neurobiology
2025

The Genetic Basis of Neurological Disorders: Missense and Nonsense Variants in Three Pakistani Families With Syndromic Intellectual Disability.

Annals of human genetics
2025

Surgical considerations in hyperopic cataract patients: optimizing outcomes and reducing complications.

Frontiers in medicine
2025

[Amyloidogenesis and neurotrophic dysfunction in age-related macular degeneration in correlation with Alzheimer's disease].

Arkhiv patologii
2025

Associations between estimated glucose disposal rate and age-related ocular diseases in cardiovascular-kidney-metabolic syndrome stages 0-3: a large prospective cohort study.

BMJ open ophthalmology
2026

Systemic and Metabolic Profile of Sagging Eye Syndrome: A Comparative Analysis.

American journal of ophthalmology
2025

Transient orbital apex syndrome with magnetic resonance imaging evidence following sub-Tenon's ropivacaine anesthesia during combined cataract and macular surgery: a case report.

BMC ophthalmology
2026

Efficacy and safety of SGLT2 inhibitor on insulin resistance and hyperglycemia in Werner syndrome-A case report.

Journal of diabetes investigation
2025

Pancreatic involvement in EPG5-related disorders.

Molecular genetics and metabolism reports
2025

Phenotype-genotype correlation of patients with congenital cataracts and hair anomalies.

Molecular vision
2025

Looking Better Follows Seeing Better: Exploring Cosmetic Procedure Trends Following Cataract Surgery-A Retrospective Cohort Study.

Aesthetic surgery journal
2025

Clinical and Molecular Clues to Diagnosing Hereditary Hyperferritinemia-Cataract Syndrome: Case Report and Literature Review.

Genes
2025

Visual impact of smartphones: A narrative review of ocular changes and management approaches.

Indian journal of ophthalmology
2026

Incidence of toxic anterior segment syndrome and endophthalmitis in 190 000 eyes in a high-volume, multisurgeon, national network of ambulatory surgical centers using uniform perioperative protocols.

Journal of cataract and refractive surgery
2025

Surgical management of chronic Stevens-Johnson syndrome.

Frontiers in medicine
2025

Hereditary Hyperferritinemia-Cataract Syndrome: A Pediatric Case Without Congenital Cataract.

Cureus
2025

Clinical variation in Lowe syndrome: what and how?

Frontiers in cell and developmental biology
2026

Cataract in children with type 1 diabetes: a single-center experience from North India on an underrecognized complication.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2026

Clinical and Molecular Study of a Gorlin Syndrome Type 1 Case.

Advances in experimental medicine and biology
2026

Extracellular matrix remodeling and endothelial fibrosis in Sturge-Weber syndrome secondary glaucoma: Insights from aqueous humor proteomics.

Experimental eye research
2026

Zebrafish col4a1 loss-of-function models mirror key neurovascular and ocular features of COL4A1/A2 syndrome and enable human variants assessment in vivo.

Matrix biology : journal of the International Society for Matrix Biology
2025

Meibomian gland changes and influencing factors following cataract surgery.

International ophthalmology
2025

The effects of povidone-ıodine and chlorhexidine gluconate on the ocular surface after phacoemulsification cataract surgery.

International ophthalmology
2026

Compound genetic burden in oculo-facio-cardio-dental (OFCD) syndrome: surgical risk stratification with co-occurring BCOR and MYLK mutations.

Ophthalmic genetics
2026

Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes.

American journal of medical genetics. Part A
2025

Connective tissue nevi: A case report of a uniquely presenting eyelid collagenoma.

American journal of ophthalmology case reports
2025

Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype.

Investigative ophthalmology &amp; visual science
2025

Brittle cornea syndrome: Integrating unique presentations and novel management options.

Oman journal of ophthalmology
2025

Comparison of microRNA expression in pseudoexfoliation syndrome with and without glaucoma.

The British journal of ophthalmology
2026

Fibromyalgia and LASIK: outcomes, complication rates, and ocular pain risk.

Journal of cataract and refractive surgery
2026

Complete anterior dislocation of the capsular bag-intraocular lens complex in pseudoexfoliation syndrome.

Journal of cataract and refractive surgery
2025

Approach to Cataract Surgery in a Case with Microcornea and Coloboma.

Romanian journal of ophthalmology
2025

EPG5-Related Disorders in Seven New Patients: Refining the Phenotypic Spectrum and Insights on Phenotype-Genotype Correlations.

Journal of molecular neuroscience : MN
2025

Novel EP300 and NSD1 variants in Chinese pediatric patients with Rubinstein-Taybi syndrome: evidence for oligogenic inheritance and phenotypic expansion.

BMC medical genomics
2025

Transformative Algal Interventions in Ophthalmology, Mechanisms, and Future Potential: A Review.

Journal of pharmacy &amp; bioallied sciences
2026

Investigation into the influence of secondary suction within FLACS on the postoperative ocular surface and associated mechanisms.

Journal of cataract and refractive surgery
2025

The Impact of a High-Fat Diet on Eye Health.

Nutrients
2025

Post-Operative Complications After Cataract Surgery in Patients with Rheumatoid Arthritis and/or Sjögren's Syndrome.

Clinical ophthalmology (Auckland, N.Z.)
2025

Prader-Willi Syndrome in Adulthood: A Case Report of Dermatologic and Ophthalmic Features Not Well Documented in the Literature.

Cureus
2025

Recent Advances in Artificial Intelligence and Nanotechnology-Driven Strategies for Diagnosis and Therapy of Ocular Diseases.

Current drug delivery
2025

Functional disability of older adult's women and men with self-reported cataract: structural equation modeling.

Ciencia &amp; saude coletiva
2025

Comparison of active sentry and ozil handpiece in cataract surgery according to the grade of nucleosclerosis and challenging conditions.

International ophthalmology
2025

Predictors of respiratory failure and survival in myotonic dystrophy type 1.

Journal of neuromuscular diseases
2026

Overexpression of Ku80 Protects Lens Epithelial Cells from Selenium-Induced Cataract Formation by Regulating the DNA Damage Response.

Current eye research
2025

Advanced Age Does Not Predispose to Intraoperative Complications Among High-Risk Cataract Surgeries.

Clinical ophthalmology (Auckland, N.Z.)
2025

Primary Intraocular Lens Insertion in Infants Under 6 Months of Age: A Retrospective Cohort Study.

Clinical ophthalmology (Auckland, N.Z.)
2025

A novel COL2A1 mutation in a Chinese family with predominantly ocular Stickler syndrome.

Frontiers in genetics
2025

Climate Change and Its Impact on Ocular Health: A Systematic Review.

Cureus
2025

Patient Selection and Maintenance of Standards to Improve the Safety of Immediate Sequential Bilateral Cataract Surgery in Tropical Regions.

Cureus
2024

Aniridic Fibrosis Syndrome in a Child with Ahmed Glaucoma Valve: Report of a Case and Review of the Literature.

Journal of current ophthalmology
2025

Risk factors and nomogram-based prediction of dry eye disease following intraocular lens implantation in cataract patients.

BMC ophthalmology
2026

Ocular Comorbidities in Psoriasis: A Retrospective Study on Dry Eye Syndrome, Keratoconus, and Cataract Development.

The Journal of dermatology
2025

Clinical characteristics and long-term outcomes of Vogt-Koyanagi-Harada disease in pediatric age group.

BMC ophthalmology
2025

Sustained-Release Biodegradable Intracameral Implants Containing Dexamethasone and Moxifloxacin: Development and In Vivo Primary Assessment.

Pharmaceutics
2025

Irvine-Gass Syndrome Personalized Treatment Outcomes: A Retrospective Single-Center Cohort Study.

Journal of personalized medicine
2025

Cataract Surgery in Pseudoexfoliation Syndrome Using the Eight-Chop Technique.

Journal of personalized medicine
2025

Saving Vision in a Child With Light Perception Vision Due to Acute Retinal Necrosis Secondary to Herpes Simplex Virus Encephalitis.

Journal of pediatric ophthalmology and strabismus
2025

Clinical effectiveness of polyvinyl alcohol in post-cataract dry eye and their effects on ccl1, IL-13 and IL-10 tear levels.

Pakistan journal of pharmaceutical sciences
2025

Performance and Safety of reused Kahook Dual Blade for combined cataract and minimally invasive glaucoma surgery in open angle-glaucoma.

Indian journal of ophthalmology
2025

Case Report: Rapid cataract development preceding diabetes mellitus in WFS1 spectrum disorder.

Frontiers in ophthalmology
2026

EFFICACY AND SAFETY OF SUPRACHOROIDAL TRIAMCINOLONE ACETONIDE IN MIXED ETIOLOGY NONINFECTIOUS CYSTOID MACULAR EDEMA.

Retina (Philadelphia, Pa.)
2025

Linking pseudo-exfoliation and serum uric acid among cataract patients.

Bioinformation
2025

Comparing the efficiency of two prophylactic approaches in patients at risk of developing Intraoperative Floppy Iris Syndrome.

Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia
2026

Ocular Comorbidities of Psoriasis: A Systematic Review and Meta-analysis of Observational Studies.

American journal of ophthalmology
2025

Identification of Variants in Four Families With Inherited Eye Disorders by Whole Exome Sequencing.

Molecular genetics &amp; genomic medicine
2025

Safety and Efficacy of Diquafosol Compared to Artificial Tears for the Treatment of Dry Eye: A Systematic Review and Meta-Analysis.

International journal of molecular sciences
2025

Clinical Course of Iris Retraction Syndrome Associated With Rhegmatogenous Retinal Detachment: A Report of Three Cases.

Cureus
2025

Anterior Capsular Contraction Syndrome in Cataract Surgery: A Review of Challenges and Solutions.

Medical science monitor : international medical journal of experimental and clinical research
2025

A novel variant of MYH9 mutation associated macro-thrombocytopenia: A case series.

Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis
2025

Prevention of pseudoexfoliation glaucoma in patients with age-related cataract in the background of pseudoexfoliation syndrome.

Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego
2025

Evaluation of the effect of autophagy on pseudoexfoliation syndrome.

The Journal of international medical research
2025

Out-Of-The-Bag Intraocular Lens Dislocation in Dead Bag Syndrome and Its Association With Eye Rubbing.

Clinical &amp; experimental ophthalmology
2025

Case Report: Abnormal pupils caused by the mitochondrial MT-TL1 gene m.3243A>G mutation.

Frontiers in pediatrics
2025

SIRT1 as a potential target for age-related eye diseases: mechanisms and therapeutic strategies.

Human cell
2025

The impact of cataract surgery on tear film physiology: signs and symptoms, progression and treatment.

Frontiers in medicine
2025

Cataract Surgery Outcomes in Patients With Axenfeld-Rieger Syndrome.

Cornea
2025

The Effect of Hyaluronic Acid-contained Artificial Tear on Refractive Accuracy of Cataract Surgery in Dry Eye Population: A Retrospective Cohort Study.

In vivo (Athens, Greece)
2025

Resuturing a Dislocated Scleral-Fixated Intraocular Lens in Brown-McLean Syndrome.

Journal of clinical medicine
2025

A Comprehensive Review of the Role of Rho-Kinase Inhibitors in Corneal Diseases.

Life (Basel, Switzerland)
2025

An Unusual Manifestation of HSV-1 Uveitis Transforming into an Acute Iris Transillumination-like Syndrome with Pigmentary Glaucoma: A Reminder of Treatment Pitfalls in Herpetic Uveitis.

Life (Basel, Switzerland)
2025

Genetic Landscape of Congenital Cataracts in a Swiss Cohort: Addressing Diagnostic Oversights in Nance-Horan Syndrome.

Biomedicines
2025

MBTPS1: a membrane-bound transcription factor protease implicated in the pathogenesis of several skin and skeletal disorders.

Functional &amp; integrative genomics
2026

Microbiota Analysis and Standard Culture Identify Bacteria in Ophthalmic Trypan Blue Solution Commonly Used During Canine Cataract Surgery.

Veterinary ophthalmology
2025

Descemet's membrane endothelial keratoplasty in an eye with iridocorneal endothelial syndrome and rare association of corneal ectasia.

Therapeutic advances in ophthalmology
2025

Regulation of toll-like receptor signaling pathways in age-related eye disease: from mechanisms to targeted therapeutics.

Inflammopharmacology
2025

Etiology and management of uveitis-glaucoma-hyphema syndrome: a comprehensive review.

International journal of ophthalmology
2025

The effect of autologous serum eye drops combined with sodium hyaluronate eye drops in the treatment of dry eye syndrome after cataract surgery.

Medicine
2025

Signal mining and risk analysis of tisotumab vedotin adverse events based on the FAERS database.

Scientific reports
2025

Multiple problems: a case of Cohen syndrome VPS13B mutation causing bilateral spherical lenses combined with retinitis pigmentosa.

BMC ophthalmology
2025

Severe clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature death.

Journal of rare diseases (Berlin, Germany)
2025

Case Report: A Chinese family with MYH9-RD caused by MYH9 p.E1841K mutation exhibiting widespread may-hegglin inclusions.

Frontiers in pediatrics
2025

The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.

American journal of ophthalmology
2025

Should XYY syndrome be considered in the differential diagnosis of syndromic myopia? Apropos of a case.

Archivos de la Sociedad Espanola de Oftalmologia
2025

Uveodermatological syndrome in dogs: A review of diagnosis, management, and ophthalmic patient needs.

Veterinarni medicina
2025

Ocular manifestations of syndromic and ocular-only phenotypes of IFT140-related recessive ciliopathies.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2025

Bilateral lens subluxation in a child with Marfan syndrome.

Journal of cataract and refractive surgery
2025

Hemorrhagic capsular block syndrome after cataract surgery.

Journal of cataract and refractive surgery
2025

Unraveling Active Surge Mitigation Actuation: Optimizing Phacoemulsification with Active Sentry Handpiece.

Korean journal of ophthalmology : KJO
2025

Prevalence and Potential Risk Factors of Ocular Disorders Among Institutionalised Adults With Intellectual Disabilities-A City-Wide Survey in Taipei City.

Journal of intellectual disability research : JIDR
2025

[Clinical phenotype and genotypic analysis of a four-generation Chinese pedigree affected with Stickler syndrome and a literature review].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

[Capsular block syndrome as the cause of a refractive surprise after cataract surgery].

Die Ophthalmologie
2025

Anchor-assisted capsular bag IOL implantation to correct subluxated lenses in children with Marfan syndrome: long-term follow-up.

Journal of cataract and refractive surgery
2025

Spectrum of inherited eye disorders at Hong Kong Children's Hospital: insights into the local genetic landscape and experience with ocular genetic services.

Hong Kong medical journal = Xianggang yi xue za zhi
2025

Long-term corneal endothelial cell loss after filtration surgery: analysis using natural language processing.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2025

Bilateral Choanal Atresia With Facial Deformity.

The Journal of craniofacial surgery
2025

Successful management of a giant macular hole in Alport syndrome using autologous retinal translation as an initial procedure.

Retinal cases &amp; brief reports
2025

Ophthalmic outcomes five years after lensectomy among children with Down syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2025

Morphological Changes in the Saw-Tooth Pattern of Cuticular Drusen Associated with Immune Complex-Mediated Membranous Proliferative Glomerulonephritis Type III: A Case Report.

Case reports in ophthalmology
2025

Ophthalmologic Manifestations in Bardet-Biedl Syndrome: Emerging Therapeutic Approaches.

Medicina (Kaunas, Lithuania)
2025

Exploring Concomitant Ophthalmic Comorbidities in Portuguese Patients with Inherited Retinal Diseases: A Comprehensive Clinical Study.

Genes
2026

The Clinical Efficacy of a Topical Selective EP2 Receptor Agonist Against Feline Glaucoma That Is Not Responsive to Conventional Anti-Glaucoma Eyedrops.

Veterinary ophthalmology
2025

Bilateral cataracts as an early ocular manifestation of senior-loken syndrome.

Journal of the National Medical Association

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.
    European journal of neurology· 2026· PMID 41841518mais citado
  2. Left-Right Determination Factor 2 (LEFTY2) Is an Aqueous Humor Biomarker for Exfoliation Glaucoma.
    Translational vision science &amp; technology· 2026· PMID 41773776mais citado
  3. Study protocol for a randomised controlled trial to evaluate the prophylactic efficacy of combined intense pulsed light (IPL) and low-level light therapy (LLLT) in preventing laser corneal refractive surgery-induced dry eye: the Treat Eye Before Laser induced Dry (TEBeLiD) study.
    BMJ open· 2026· PMID 41748188mais citado
  4. WDR59 Is Mutated in Individuals With Autosomal Recessive Syndromic Dilated Cardiomyopathy.
    Clinical genetics· 2026· PMID 41715954mais citado
  5. Case Report: Sengers syndrome caused by a novel 7.6&#x2005;kb AGK deletion misdiagnosed as isolated congenital cataract.
    Frontiers in pediatrics· 2026· PMID 41695748mais citado
  6. Prevalence and associated factors of pseudoexfoliation syndrome among cataract patients attending comprehensive specialized hospitals in Northwest Ethiopia.
    Sci Rep· 2026· PMID 41865067recente
  7. Isocenter Optimization in WBRT: Concurrent Sparing of Lens and Lacrimal Gland via Anterior Penumbra Sharpening.
    J Appl Clin Med Phys· 2026· PMID 41846498recente
  8. Accidental Entry of Ointment in Anterior Chamber Postcataract Surgery: A Clinical Conundrum.
    Ann Afr Med· 2026· PMID 41837825recente
  9. [Cockayne syndrome: peculiarities of clinical manifestations and algorithm of observation in childhood].
    Probl Endokrinol (Mosk)· 2026· PMID 41834603recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:85163(Orphanet)
  2. OMIM OMIM:610532(OMIM)
  3. MONDO:0012514(MONDO)
  4. GARD:11980(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q28065598(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Síndrome de hipomielinização-catarata congênita
Compêndio · Raras BR

Síndrome de hipomielinização-catarata congênita

ORPHA:85163 · MONDO:0012514
Prevalência
<1 / 1 000 000
Casos
10 casos conhecidos
Herança
Autosomal recessive
CID-10
G37.8 · Outras doenças desmielinizantes especificadas do sistema nervoso central
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1864663
Wikidata
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