Raras
Buscar doenças, sintomas, genes...
Síndrome de microcefalia-fenda palatina-pigmentação da retina anormal
ORPHA:2521CID-10 · Q87.8DOENÇA RARA

A síndrome de microcefalia-fenda palatina com pigmentação retiniana anormal é uma síndrome rara de fissura orofacial caracterizada por microcefalia, fissura do palato secundário e outras anormalidades variáveis, incluindo pigmentação retiniana anormal, dismorfismo facial com hipotelorismo e hipoplasia maxilar. Bócio, camptodactilia, dermatoglifia anormal e deficiência intelectual leve também podem estar associados. Não houve mais descrições na literatura desde 1983.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A síndrome de microcefalia-fenda palatina com pigmentação retiniana anormal é uma síndrome rara de fissura orofacial caracterizada por microcefalia, fissura do palato secundário e outras anormalidades variáveis, incluindo pigmentação retiniana anormal, dismorfismo facial com hipotelorismo e hipoplasia maxilar. Bócio, camptodactilia, dermatoglifia anormal e deficiência intelectual leve também podem estar associados. Não houve mais descrições na literatura desde 1983.

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
3
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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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

😀
Face
5 sintomas
🧠
Neurológico
3 sintomas
👂
Ouvidos
1 sintomas
👁️
Olhos
1 sintomas
🦴
Ossos e articulações
1 sintomas

+ 1 sintomas em outras categorias

Características mais comuns

90%prev.
Úvula bífida
Muito frequente (99-80%)
90%prev.
Microcefalia
Muito frequente (99-80%)
90%prev.
Fissura palatina
Muito frequente (99-80%)
90%prev.
Fenda submucosa do palato duro
Muito frequente (99-80%)
17%prev.
Dificuldade específica de aprendizagem
Ocasional (29-5%)
17%prev.
Prognatismo mandibular
Ocasional (29-5%)
12sintomas
Muito frequente (4)
Ocasional (8)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 12 características clínicas mais associadas, ordenadas por frequência.

Úvula bífidaBifid uvula
Muito frequente (99-80%)90%
MicrocefaliaMicrocephaly
Muito frequente (99-80%)90%
Fissura palatinaCleft palate
Muito frequente (99-80%)90%
Fenda submucosa do palato duroSubmucous cleft hard palate
Muito frequente (99-80%)90%
Dificuldade específica de aprendizagemSpecific learning disability
Ocasional (29-5%)17%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202591 papers
Linha do tempo
2026Hoje · 2026📈 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

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome de microcefalia-fenda palatina-pigmentação da retina anormal

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Selecione um estado ou use sua localização para ver resultados.

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

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Evaluation of Melanin Changes in Acute Vogt-Koyanagi-Harada Disease Using Polarization-Sensitive Optical Coherence Tomography.

Investigative ophthalmology &amp; visual science2026 Jan 05

To examine melanin changes in the RPE and choroid during the acute phase of Vogt-Koyanagi-Harada (VKH) disease using polarization-sensitive optical coherence tomography (PS-OCT). This study included 15 eyes of 8 patients with new-onset VKH disease and 5 eyes of 3 patients with posterior scleritis. PS-OCT captured a 12 × 12 mm area centered on the fovea, and en face images were created for the RPE and choroid. Polarimetric entropy within a 6-mm diameter circle centered on the fovea was calculated and compared between groups. Choroidal polarimetric entropy was significantly lower in eyes with VKH disease than in those with posterior scleritis at baseline (0.296 ± 0.047 vs. 0.392 ± 0.050; P = 0.005; r = 0.64; 95% confidence interval, 0.42-0.74). One month after starting treatment, eyes with VKH disease showed a significant increase in choroidal polarimetric entropy (0.296 ± 0.047 to 0.350 ± 0.075; P = 0.001; r = 0.85; 95% confidence interval, 0.61-0.95), whereas no significant change was observed in eyes with posterior scleritis. RPE polarimetric entropy showed no significant changes between baseline and 1 month, with no differences between groups. PS-OCT revealed that choroidal melanin density decreased during the acute phase of VKH disease and significantly increased after treatment. PS-OCT provides a noninvasive method for observing melanin dynamics in VKH disease and aids in differentiating it from posterior scleritis. PS-OCT could offer valuable insights into the pathology of VKH disease and its potential implications for management.

#2

Exploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health.

Cellular and molecular life sciences : CMLS2026 Jan 13

Usher syndrome type 1B (USH1B) is a rare inherited disorder characterized by congenital deafness and progressive retinitis pigmentosa, caused by biallelic pathogenic variants in the MYO7A gene. We explored extracellular vesicles (EVs) from two sources: human tears and iPSC-derived RPE cells from USH1B patients and controls. Tear EVs were assessed as a non-invasive biomarker source, while RPE-derived EVs provided insights into disease mechanisms in a controlled, cell-type-specific context. Although RPE differentiation was successful and MYO7A expression levels were similar between patients and controls, Myosin VIIA was not detected by western blot in the patient-derived cells. We examined the EV cargo by small non-coding RNAs (sncRNAs) sequencing from iPSC-RPE apical site and tears to identify molecular signatures of retinal degeneration. Tear EVs showed higher load and diversity of miRNAs than RPE-derived EVs, reflecting a broader ocular origin. Comparative analysis revealed shared retinal sncRNAs (hsa-miR-204, hsa-miR-211, hsa-miR-181a-5p) and group-specific differences. Notably, when comparing to controls, hsa-miR-200a-3p and hsa-miR-194-5p were upregulated in patient tear EVs, while let-7i/c-5p and hsa-miR-320a/b, were downregulated in-patient RPE-derived EVs. Pathway analysis linked these sncRNAs to retinal structure and function, including cytoskeletal remodeling and junctional integrity. Our findings highlight the potential of tear EVs as a non-invasive source of biomarkers that capture retinal molecular alterations in USH1B, with applications for diagnosis, monitoring, and therapeutic development. Although this is a pilot study focused on uncovering promising biomarkers rather than establishing definitive cause-effect mechanisms, it provides a foundation for future research with larger cohorts to validate and expand these findings.

#3

Congenital Optic Nerve Anomalies and Associated Systemic Conditions.

International ophthalmology clinics2026 Apr 01

Congenital optic nerve anomalies represent a group of structural malformations that impair vision, increase the risk of ophthalmic complications, and are frequently associated with systemic conditions. We provide a review of major congenital optic disc anomalies, including optic nerve hypoplasia, morning glory disc anomaly, optic disc coloboma, peripapillary staphyloma, persistent fetal vasculature, myelinated nerve fibers, tilted disc syndrome, optic disc pit, papillorenal syndrome, optic disc drusen, and congenital optic disc pigmentation. We will review the definition, epidemiology, pathophysiology, clinical presentation, diagnostic workup, and associated systemic findings. An emphasis is placed on screening and multidisciplinary management aimed at correcting and preserving vision and preventing complications, such as retinal detachment, maculopathy, strabismus, amblyopia, and endocrine disorders. Diagnosis tools, including optical coherence tomography (OCT), B-scan ultrasonography, magnetic resonance imaging (MRI), and computed tomography (CT), are highlighted for their role in screening for these conditions. Many congenital optic nerve anomalies lack a definitive cure, and some conditions are extremely rare and do not have well-defined treatment protocols. However, routine ophthalmic examination, correction of refractive errors, visual surveillance for systemic conditions, and surgical intervention can optimize patient outcomes. Furthermore, multidisciplinary collaboration between ophthalmologists and other physicians, including pediatricians, endocrinologists, neurologists, and geneticists is often needed to facilitate care.

#4

NON-INFECTIOUS POSTERIOR UVEITIDES - Atypicals, Variants, and Masquerades: the jungle of differential diagnosis.

American journal of ophthalmology2026 Mar 18

Non-infectious posterior and panuveitides (NIPUs) comprise a heterogeneous group of inflammatory disorders of the outer retina and choroid, historically referred to as "white dot syndromes." Recent consensus efforts by the Multimodal Imaging in Uveitis (MUV) Task Force have established standardized diagnostic criteria for the major NIPUs, including multiple evanescent white dot syndrome (MEWDS), multifocal choroiditis and panuveitis/punctate inner choroiditis (MFCPU/PIC), acute posterior multifocal placoid pigment epitheliopathy (APMPPE), serpiginous choroiditis, and birdshot chorioretinopathy (BSCR). Nevertheless, a substantial proportion of cases deviate from classical presentations and fall into diagnostic "grey zones", blurring boundaries between diseases entities and complicating both differential diagnosis and management. This review aims to describe the broad spectrum of atypical, variant, and secondary forms of NIPUs as well as masquerade syndromes. Atypical MEWDS includes bilateral presentations or complicated courses, while MFCPU/PIC with outer retinal atrophy emerges as a notable entity with unclear therapeutic implications. Inflammatory reactions resembling both MEWDS and MFCPU/PIC may also occur as secondary phenomena, triggered by other chorioretinal disorders, most notably inherited retinal diseases (IRDs). Placoid chorioretinopathies, including APMPPE, persistent placoid maculopathy, serpiginous choroiditis, and relentless placoid chorioretinitis, are often distinguished only a posteriori based on disease course, but likely represent a continuum of disorders unified by choroidal ischemia. Atypical presentations of BSCR may feature extensive outer retinal damage, mimicking IRDs. Equally important is the consideration of masquerade syndromes in all suspected cases of NIPUs, as they can present with similar features yet require entirely different treatments. Infectious masquerades include tuberculosis-associated serpiginous-like choroiditis, acute syphilitic posterior placoid chorioretinopathy, and West Nile virus chorioretinitis, whereas vitreoretinal lymphoma is the most frequent neoplastic masquerade. In conclusion, integrating clinical context with high-quality multimodal imaging remains essential to navigate the jungle of differential diagnosis in NIPUs, while future studies should aim to link imaging phenotypes with immune and molecular biomarkers to refine classification and guide targeted therapies.

#5

Paraneoplastic vitelliform retinopathy successfully treated with intravitreal dexamethasone implants.

American journal of ophthalmology case reports2026 Jun

To report a rare case of paraneoplastic vitelliform retinopathy, characterized by detachments of the retinal pigment epithelium and neurosensory retina manifesting as vitelliform lesions, successfully managed with a sustained-release intravitreal dexamethasone implant in a patient receiving systemic immunotherapy for metastatic cutaneous melanoma. A 79-year-old man presented with progressive bilateral visual loss and serous retinal detachment. Multimodal retinal imaging revealed bilateral vitelliform lesions, choroidal thickening, and subretinal fluid. Electroretinography demonstrated an electronegative waveform, supporting the diagnosis of a condition in the spectrum of MAR. Systemic evaluation revealed axillary melanoma metastasis confirmed by fine-needle aspiration. Despite treatment with systemic pembrolizumab and a trial of intravitreal anti-VEGF injections, visual symptoms and subretinal fluid persisted. Bilateral intravitreal dexamethasone implants led to marked anatomical and functional improvement within one month, with sustained benefits observed over a two-year follow-up. This case highlights the potential role of local corticosteroid therapy in paraneoplastic vitelliform lesions secondary to metastatic melanoma, particularly when systemic immunosuppression is contraindicated.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 198

2026

Congenital Optic Nerve Anomalies and Associated Systemic Conditions.

International ophthalmology clinics
2026

NON-INFECTIOUS POSTERIOR UVEITIDES - Atypicals, Variants, and Masquerades: the jungle of differential diagnosis.

American journal of ophthalmology
2026

Paraneoplastic vitelliform retinopathy successfully treated with intravitreal dexamethasone implants.

American journal of ophthalmology case reports
2026

Multimodal Imaging Features of Bilateral Diffuse Uveal Melanocytic Proliferation: A Systematic Review of 82 Patients.

Ocular oncology and pathology
2026

Systemic and Ocular Manifestations of a Ciliopathy: A Case Report of Renal-Retinal Involvement in Senior-Loken Syndrome.

Journal of clinical medicine
2026

Compound heterozygous mutations in the USH2A gene causing non-syndromic retinitis pigmentosa.

Ophthalmic genetics
2026

Central Serous Chorioretinopathy in Parallel With Onset and Relapses of Minimal Change Nephrotic Syndrome: A 28-Year Case Follow-Up.

Cureus
2026

[Neovascular complications of choroidal osteoma: Diagnosis and treatment].

Journal francais d'ophtalmologie
2026

Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium leading to nanophthalmos.

JCI insight
2026

Development of an Acute Intracranial Hypertension-Induced Rat Model for Terson Syndrome and Mechanisms of Blood-Retinal Barrier Breakdown.

Current eye research
2026

Layer-by-layer macular, peripapillary and choroidal thickness and minimum rim width in patients with clinically unilateral pseudoexfoliation syndrome: cross-sectional analysis using glaucoma module premium edition of the spectralis SD-OCT.

BMC ophthalmology
2026

Revisiting pathologic myopia: imaging evidence of an inflammatory component in the pathogenesis of myopic degeneration.

Frontiers in medicine
2026

Vogt-Koyanagi-Harada disease under the lens: Insights from multimodal ocular imaging.

Progress in retinal and eye research
2026

Sex-Related Effects on the Clinical Presentation of Uveitis.

American journal of ophthalmology
2026

Non-Neoplastic Disorders Mimicking Anterior Uveitis.

Ocular immunology and inflammation
2026

Pigmentary Retinopathy in Alagille Syndrome: Fundus Findings in a Two-Year-Old Boy.

Diagnostics (Basel, Switzerland)
2025

Severe Permanent Visual Decline After Hypotony-Induced Retinal Pigment Epithelial Changes.

Cureus
2026

Reclassification of a novel NR2E3 variant as likely pathogenic: a case report of autosomal recessive RP37 in siblings.

Ophthalmic genetics
2026

Evaluation of Melanin Changes in Acute Vogt-Koyanagi-Harada Disease Using Polarization-Sensitive Optical Coherence Tomography.

Investigative ophthalmology &amp; visual science
2026

Alpha-mannosidosis due to a novel MAN2B1 truncating mutation in a Chinese patient: a new report and long-term follow-up.

Documenta ophthalmologica. Advances in ophthalmology
2026

Exploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health.

Cellular and molecular life sciences : CMLS
2025

Monitoring Acute Posterior Multifocal Placoid Pigment Epitheliopathy Disease Progression Using Non-invasive Multimodal Imaging: A Case Series.

Cureus
2026

En Face Optical Coherence Tomography and OCT Angiography in the Pathoanatomy of Inflammatory Macular Disease.

American journal of ophthalmology
2026

A unique case of microspherophakia in adult Refsum disease.

American journal of ophthalmology case reports
2025

Exome sequencing identifies novel genetic variants in patients with atypical Non-Syndromic retinitis pigmentosa.

Molecular biology reports
2025

Retinal Pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11-Related Phenotype.

Clinical genetics
2025

A deeper assessment of various choroidal and demographic biomarkers among symptomatic pachychoroid spectrum entities within a tertiary referral center.

Retina (Philadelphia, Pa.)
2025

Immediate sequential bilateral retinal detachment repair in a patient with suspected COL2A1 and APC mutations.

Journal of vitreoretinal diseases
2025

Opposing pathophysiological concepts in multiple evanescent white dot syndrome: The great MEWDS schism.

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society
2025

Acute posterior multifocal placoid pigment epitheliopathy complicated by a stroke, leading to the diagnoses of lupus anticoagulant and hypercysteinemia.

Journal francais d'ophtalmologie
2025

Novel variant in PNPLA6 gene causes Oliver-McFarlane syndrome in a Chinese family: 13 years follow-up.

Frontiers in genetics
2025

Pauci-immune crescentic glomerulonephritis masquerading as goodpasture syndrome: ocular clues in a young adult: a case report.

BMC ophthalmology
2025

Mitochondrial Macular Dystrophy-A Case Report and Mini Review of Retinal Dystrophies.

Journal of clinical medicine
2026

Expanding the Phenotype of Syndromic SLC30A9 -Associated Disease.

American journal of medical genetics. Part A
2026

Phenotypic expansion of retinal abnormalities in folliculin (FLCN) variant-related pathology (Birt-Hogg-Dubé syndrome).

Ophthalmic genetics
2025

Novel mutation in CNNM4 gene in a Chinese family with Jalili syndrome and literature review.

International journal of ophthalmology
2025

[Clinical and genetic characteristics of 6 cases of congenital dyskeratosis in children].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2025

Bilateral ampiginous choroiditis after COVID-19: a report of two cases.

Romanian journal of ophthalmology
2025

Bilateral multiple evanescent white dot syndrome documented and followed by swept-source OCT angiography: a case report.

Journal of ophthalmic inflammation and infection
2025

Hemophagocytic lymphohistiocytosis of the ocular adnexal mimicking orbital cellulitis in a patient with unknown X-linked lymphoproliferative syndrome type 1 (XLP1): Case report and literature review.

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society
2025

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

Nutrients
2025

A Rare Case of Hunter Syndrome (Mucopolysaccharidosis II) With Bilateral Maculopathy Associated With Rod-Cone Dystrophy.

Cureus
2026

Late diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrum.

Ophthalmic genetics
2026

Bilateral Exudative Chorioretinopathy in All-trans Retinoic Acid-Associated Differentiation Syndrome.

Ophthalmic surgery, lasers &amp; imaging retina
2025

A case of paracentral acute middle maculopathy and retinal vein occlusion: idiopathic occlusive retinal vasculitis or incomplete Behçet's disease?

BMC ophthalmology
2025

Do variants in the CDH23 gene cause non-syndromic retinitis pigmentosa? Dual validation using whole exome sequencing and a zebrafish model.

BMJ open ophthalmology
2026

Ocular Manifestations of ROSAH Syndrome Caused by Different Mutations of the ALPK1 Gene.

American journal of ophthalmology
2026

Gain-of-Function Variant in STAT3 and Retinal Macular Edema: Insights into the IL-6 R/JAK/STAT3 Pathway in Retinal Pigment Epithelium.

Ocular immunology and inflammation
2025

Decoding pediatric inherited retinal dystrophies: Bridging genetic complexity and clinical heterogeneity.

Progress in retinal and eye research
2025

Association of Central Serous Chorioretinopathy With Endogenous or Exogenous Corticosteroids: A Report of 2 Cases.

JCEM case reports
2025

Pigment Pathways Collide: A Rare Case of Retinitis Pigmentosa and Nevus of Ota.

Cureus
2025

Pentosan polysulfate maculopathy: clinical considerations, pathobiology, and causality.

Progress in retinal and eye research
2025

Retinal multimodal-imaging and functional tests in a mitochondrial disease with focal and segmental glomerulosclerosis.

International journal of ophthalmology
2026

Controversies and conundrums in pachychoroid spectrum disorders: A structured diagnostic approach.

Survey of ophthalmology
2025

Acute Posterior Multifocal Placoid Pigment Epitheliopathy: Clinical and Iconographical Aspects of Two Cases.

Cureus
2025

Subhyaloid Hemorrhage after Bungee Jumping Experience. A Case Report.

Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti
2025

Reduced complex I activity in the retinal pigment epithelium, but not in rod photoreceptors, affects light signaling without impacting cell survival.

The Journal of biological chemistry
2026

Retinal astrocytoma and Jeune syndrome relationship from ciliopathy perspective: a case report.

Ophthalmic genetics
2025

A Case of Congenital Glaucoma in a 5-Year-Old Patient With Sturge-Weber Syndrome and Oculodermal Melanocytosis.

Case reports in ophthalmological medicine
2025

Minimum Imaging Sets for Diagnosis, Activity Assessment, and Complications in Noninfectious Posterior Uveitis - Multimodal Imaging in Uveitis (MUV) Task Force Report 9.

American journal of ophthalmology
2025

25-hydroxysterol mitigates microgravity-induced retinal damage by suppressing microglial inflammation through disrupting lipid raft formation.

NPJ microgravity
2025

Concurrent Wagner syndrome and retinopathy of prematurity.

American journal of ophthalmology case reports
2025

Noninfectious Uveitis Syndromes.

Advances in experimental medicine and biology
2025

Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome).

Advances in experimental medicine and biology
2025

Unmasking Acute Posterior Multifocal Placoid Pigment Epitheliopathy (APMPPE) Through Multimodal Imaging: A Case Report.

Cureus
2025

Bilateral Pigmentary Retinopathy in a Pseudophakic Patient With Chronic Pigment Dispersion Syndrome Following Pars Plana Vitrectomy for Vitreous Opacities.

Ophthalmic surgery, lasers &amp; imaging retina
2025

Bilateral Diffuse Uveal Melanocytic Proliferation in a Patient with Chronic Myelomonocytic Leukemia: A Rare Case and Literature Review.

Reports (MDPI)
2025

Systematic Review of Clinical Utility of Multimodal Imaging in Noninfectious Posterior Uveitis: MUV Project Report 3.

American journal of ophthalmology
2025

Early-Onset Retinal Dysfunction Associated with Novel WDR19 Variants in Sensenbrenner Syndrome.

Diagnostics (Basel, Switzerland)
2025

Spaceflight Associated Neuro-Ocular Syndrome as a Potential Variant of Venous Overload Choroidopathy.

Aerospace medicine and human performance
2025

Cemiplimab-Induced Vogt-Koyanagi-Harada-Like Syndrome in a Patient With Cutaneous Squamous Cell Carcinoma of the Lower Back.

Journal of investigative medicine high impact case reports
2025

[Genetic analysis of a child with gastrointestinal hemorrhage and Cerebroretinal microangiopathy with calcifications and cysts and a literature review].

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

Strabismus and nystagmus in oculocutaneous albinism: clinical perspectives, diagnosis, and role of neurotransmitters.

Neurogenetics
2025

Artificial Intelligence Deep Learning Models to Predict Spaceflight Associated Neuro-Ocular Syndrome.

American journal of ophthalmology
2025

Clinical and Imaging Features Aiding the Differentiation of Acute Posterior Multifocal Placoid Pigmented Epitheliopathy from Other Placoid Diseases.

Ocular immunology and inflammation
2025

A Closer Look: Familial Adenomatous Polyposis Suspected Through Ophthalmological Findings in an Adolescent.

Cureus
2025

Clinical guidelines for the diagnosis and treatment of vitreoretinal lymphoma in Chinese patients (2024).

Eye and vision (London, England)
2025

Evidence of an unprecedented cytoplasmic function of DDX11, the Warsaw breakage syndrome DNA helicase, in regulating autophagy.

Autophagy
2025

Syndromic forms of inherited retinal dystrophies: a comprehensive molecular diagnosis of consanguineous Pakistani families using capture panel sequencing.

Molecular vision
2025

Acute Angioid Streak Retinopathy is a Two-Phase Inflammatory Process Starting with Outer Retinal Inflammation, Followed by Secondary MEWDS.

Ocular immunology and inflammation
2025

Optical Coherence Tomography Biomarkers in Acute Vogt-Koyanagi-Harada Disease: Clinical Significance of Hyperreflective Outer Nuclear Layer and Bacillary Layer Detachment.

Ocular immunology and inflammation
2025

A one-year prospective study of chorioretinal scars and optic disk characteristics in children with congenital Zika syndrome.

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

Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium.

bioRxiv : the preprint server for biology
2025

Comparison of Fundus Autofluorescence and Indocyanine Green Angiography in Multiple Evanescent White Dot Syndrome.

Ophthalmology science
2025

Retinal Vasculitis in Familial Blau Syndrome.

Ocular immunology and inflammation
2025

Atypical Mid-Late Phase ICGA Hyperfluorescence in a Secondary MEWDS Case: A Distinct Disease or a Shift in Our Understanding of MEWDS?

Ocular immunology and inflammation
2025

A novel mutation in CNNM4 is associated with a case of Jalili syndrome in Egypt.

Documenta ophthalmologica. Advances in ophthalmology
2025

Optical Density Analysis of Subretinal Fluid in Vogt Koyanagi Harada Disease, Posterior Scleritis and Acute Central Serous Chorioretinopathy.

Ocular immunology and inflammation
2025

Mitochondrial DNA Pathogenic Variants in Ophthalmic Diseases: A Review.

Genes
2025

[VOGT-KOYANAGI-HARADA SYNDROME].

Harefuah
2025

H105A peptide eye drops promote photoreceptor survival in murine and human models of retinal degeneration.

Communications medicine
2025

Depigmentation of RPE Hypertrophy in Vogt-Koyanagi-Harada Syndrome.

JAMA ophthalmology
2025

Unilateral choroidal detachment in an elderly patient with Vogt-Koyanagi-Harada disease: a case report and literature review.

Frontiers in immunology
2025

Peripapillary alterations in Idiopathic Normal Pressure Hydrocephalus.

Retina (Philadelphia, Pa.)
2025

Vitrectomy Combined With Gas Tamponade for the Treatment of Morning Glory Syndrome With Rhegmatogenous Retinal Detachment: A Case Report.

Cureus
2025

Bilateral drusenoid deposits with subretinal fluid and cystoid macular edema in a serum anti-phospholipase A2 receptor antibody positive patient: A case report.

Heliyon
2025

Spatial characterization of RPE structure and lipids in the PEX1-p.Gly844Asp mouse model for Zellweger spectrum disorder.

Journal of lipid research
2025

A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models.

Human molecular genetics
2025

TIM8 Deficiency in Yeast Induces Endoplasmic Reticulum Stress and Shortens the Chronological Lifespan.

Biomolecules
2025

CHOROIDAL NEOVASCULARIZATION IN A CHILD WITH DOWN SYNDROME.

Retinal cases &amp; brief reports
2025

Idiopathic Acute Exudative Polymorphous Vitelliform Maculopathy: A Case Report.

International medical case reports journal
2025

A Case of Concomitant Acute Zonal Occult Outer Retinopathy and Secondary Nonparaneoplastic Autoimmune Retinopathy.

Case reports in ophthalmology
2025

Reabsorption of vitreomacular traction syndrome-related acquired vitelliform lesions after pars plana vitrectomy.

International ophthalmology
2025

Characterisation of SLC38A8 and Its Role in Retinal Pathways and Disease.

Clinical &amp; experimental ophthalmology
2025

Torpedo maculopathy in a patient with DeSanto-Shinawi syndrome.

European journal of ophthalmology
2024

Choroidal neovascularization secondary to angioid streaks in a patient with pseudoxanthoma elasticum: case report.

Romanian journal of ophthalmology
2025

Two Cases of ROSAH-Like Syndrome Restricted to the Ophthalmologic Presentation.

Ocular immunology and inflammation
2025

Familial adenomatous polyposis family with clustering of psychiatric disorders.

Japanese journal of clinical oncology
2025

Precocious puberty: the unlikely herald of Familial adenomatous polyposis in a young girl.

BMJ case reports
2024

Posterior segment findings in a patient with a CDHR1 biallelic pathogenic variant.

American journal of ophthalmology case reports
2024

[Peripapillary pachychoroid syndrome].

Vestnik oftalmologii
2024

[Retinopathy associated with thrombotic microangiopathy of mixed origin (case report)].

Vestnik oftalmologii
2024

A case documenting distinct natural history of multizonal outer retinopathy and retinal pigment epitheliopathy (MORR) with longitudinal multi-modal documentation of progression.

American journal of ophthalmology case reports
2025

Stage 1 Extensive Macular Atrophy with Pseudodrusen-Like Appearance Complicated by Multiple Evanescent White Dot Syndrome-Like Reaction.

Ocular immunology and inflammation
2024

An update of multimodal imaging in white dot syndrome.

Oman journal of ophthalmology
2024

Nodular Posterior Scleritis Mimicking Non-pigmented Choroidal Melanoma: A Case Report and Literature Review.

Cureus
2025

CBL syndrome presenting with severe EBV infection and panuveitis masquerade.

European journal of ophthalmology
2025

The Ercc1-/Δ mouse model of XFE progeroid syndrome undergoes accelerated retinal degeneration.

Aging cell
2025

Asymmetric choroidal vascular pattern in tilted disc syndrome.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2024

A Rare Case of Combined Direct Retinal Involvement and Suspected Bing-Neel Syndrome in a Patient With Waldenstrom's Macroglobulinemia.

Cureus
2026

BILATERAL MACULAR DYSPLASIA IN COFFIN-SIRIS SYNDROME.

Retinal cases &amp; brief reports
2024

Retinal Pigment Epithelial Proliferation Secondary to Retinal Ischemia: A Case Report and Literature Review.

Case reports in ophthalmology
2024

Bilateral asynchronous acute idiopathic maculopathy with disease recurrence.

American journal of ophthalmology case reports
2025

Multiple Evanescent White Dot Syndrome (MEWDS) Secondary to Acute Retinal Pigment Epitheliitis: Possible Atypical Presentation of MEWDS?

Ocular immunology and inflammation
2025

SECONDARY MULTIPLE EVANESCENT WHITE DOT SYNDROME IN A PATIENT WITH NORTH CAROLINA MACULAR DYSTROPHY.

Retinal cases &amp; brief reports
2024

prominin-1-null Xenopus laevis develop subretinal drusenoid-like deposits, cone-rod dystrophy and RPE atrophy.

Journal of cell science
2024

Multimodal Evaluation and Management of Wagner Syndrome-Three Patients from an Affected Family.

Genes
2024

Overlapping clinical features of persistent fetal vasculature and combined hamartoma of the retina and retinal pigment epithelium.

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

Expanding the mutational and phenotypical spectrum of FHONDA syndrome.

European journal of ophthalmology
2024

Ophthalmic findings in Alström syndrome.

Ophthalmic genetics
2024

A novel large multi-gene deletion in syndromic choroideremia.

Ophthalmic genetics
2024

A Case Report and Literature Review of Vogt-Koyanagi-Harada-Like Uveitis Secondary to Dabrafenib and Trametinib: 4-Year Follow-Up Using Retinal Multimodal Imaging.

Ocular immunology and inflammation
2024

Clinical spectrum and possible pathogenesis of progressive outer retinal necrosis.

The British journal of ophthalmology
2024

Description and Characteristics of Ocular Tumor Lysis Syndrome.

Ocular oncology and pathology
2025

Association Between Baseline Macular Morphologic Features on Optical Coherence Tomography and Visual Outcomes in Patients with Vogt-Koyanagi-Harada Disease.

Ocular immunology and inflammation
2024

Age-related retinal degeneration resulting from the deletion of Shp2 tyrosine phosphatase in photoreceptor neurons.

Cell death &amp; disease
2024

MI-181 Modulates Cilia Length and Restores Cilia Length in Cells with Defective Shortened Cilia.

ACS chemical biology
2025

SECONDARY MULTIPLE EVANESCENT WHITE DOT SYNDROME AFTER BLUNT TRAUMA.

Retinal cases &amp; brief reports
2024

MFRP variations cause nanophthalmos in five Chinese families with distinct phenotypic diversity.

Frontiers in genetics
2024

PREDNISOLONE EYE DROPS AS A POTENTIAL TREATMENT IN NONNEOVASCULAR PACHYCHOROID-RELATED DISEASES.

Retina (Philadelphia, Pa.)
2024

Characterization of Ocular Morphology in Col4a3-/- Mice as a Murine Model for Alport Syndrome.

Translational vision science &amp; technology
2024

Non-syndromic OTX2-associated pattern dystrophy: a 10-year multimodal imaging study.

Documenta ophthalmologica. Advances in ophthalmology
2024

Ocular toxicity of psychotropic medications in a tertiary hospital in Lagos, Nigeria.

Romanian journal of ophthalmology
2024

Application of Ophthalmic Electrophysiology in Inflammatory Disorders of Retina and Optic Nerve.

Journal of clinical medicine
2024

Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights.

Scientific reports
2024

A novel small deletion in CWC27 gene associated with CWC27-related spliceosomeopathy.

Ophthalmic genetics
2024

Detailed phenotype and long-term follow-up of RAB28-associated cone-rod dystrophy.

Ophthalmic genetics
2025

Dynamic Changes of Fundus and Predictors of Visual Prognosis in New-Onset Vogt-Koyanagi-Harada Disease.

Ocular immunology and inflammation
2024

Prominin-1 null Xenopus laevis develop subretinal drusenoid-like deposits, cone-rod dystrophy, and RPE atrophy.

bioRxiv : the preprint server for biology
2024

Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver-McFarlane Syndromes.

International journal of molecular sciences
2024

Optical coherence tomography biomarkers in MYO7A-inherited retinal dystrophy: longitudinal study in pediatric patients.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2024

Pigmentary retinal dystrophy associated with peroxisome biogenesis disorder-Zellweger syndrome spectrum.

Oxford medical case reports
2024

Vogt-Koyanagi-Harada Disease: A Narrative Review.

Cureus
2024

A novel homozygous missense variant identified in the myosin VIIA motor domain of a Moroccan patient with usher syndrome.

Molecular biology reports
2024

Sjögren: unique surname, two men, four syndromes and one disease.

Arquivos de neuro-psiquiatria
2023

Vitiligo as a First Sign of Vogt-Koyanagi-Harada Disease.

Acta dermatovenerologica Croatica : ADC
2024

Restoring retinal polyunsaturated fatty acid balance and retina function by targeting ceramide in AdipoR1-deficient mice.

The Journal of biological chemistry
2024

Trousseau's Syndrome With Severe Visual Loss As the Initial Symptom.

Cureus
2024

Evaluation of clinical outcomes of raised intraocular pressure following intravitreal triamcinolone acetonide injection.

Romanian journal of ophthalmology
2024

Traumatic terson syndrome with a peculiar mass lesion and tractional retinal detachment: a case report.

BMC ophthalmology
2024

A case of secondary multiple evanescent white dot syndrome in a patient with preexisting wet age-related macular degeneration.

American journal of ophthalmology case reports
2024

Diagnostic Challenges in Inflammatory Choroidal Neovascularization.

Medicina (Kaunas, Lithuania)
2024

Value and Significance of Hypofluorescent Lesions Seen on Late-Phase Indocyanine Green Angiography.

Ophthalmology science
2024

White Dot Syndromes: Report of Three Cases.

Case reports in ophthalmology
2024

Ocular Involvement in Systemic Sclerosis: Updated Review and New Insights on Microvascular Impairment.

Ocular immunology and inflammation
2024

Current understanding of acute zonal occult outer retinopathy (AZOOR).

Indian journal of ophthalmology
2024

Bilateral helicoid peri-papillary sub-retinal fibrosis due to a biallelic NR2E3 mutation: Describing variable expressivity of a mutation.

European journal of ophthalmology
2025

SUCCESSFUL TREATMENT OF CANCER-ASSOCIATED RETINOPATHY WITH INTRAVITREAL DEXAMETHASONE IMPLANT FOLLOWED BY A 0.18-MG FLUOCINOLONE IMPLANT WITHOUT SYSTEMIC IMMUNOSUPPRESSION.

Retinal cases &amp; brief reports
2024

Peripapillary retinal neovascularization and vitreous hemorrhage secondary to peripapillary pachychoroid syndrome.

American journal of ophthalmology case reports
2024

Evaluation and comparison of microperimetry and optical coherence tomography findings in patients with Behçet uveitis.

International ophthalmology
2024

Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family.

Hereditas
2024

m6A-Mediated Upregulation of Imprinted in Prader-Willi Syndrome Induces Aberrant Apical-Basal Polarization and Oxidative Damage in RPE Cells.

Investigative ophthalmology &amp; visual science
2024

Regeneration from three cellular sources and ectopic mini-retina formation upon neurotoxic retinal degeneration in Xenopus.

Glia
2024

Generation of the induced pluripotent stem cell line IOCVi001-A from a patient with the MFRP-related retinitis pigmentosa-nanophthalmos syndrome.

Stem cell research
2024

Unilateral acute posterior multifocal placoid pigment epitheliopathy (APMPPE) with delayed contralateral eye involvement.

BMC ophthalmology
2024

Long-term follow-up of torpedo maculopathy: a case series and mini-review.

BMC ophthalmology
2024

[Analysis of a child with CLN1 neuronal ceroid lipofuscinosis in conjunct with Hereditary hyperferinemia cataract syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2022

Coronavirus Disease 2019-induced Acute Exudative Polymorphous Vitelliform Maculopathy.

Middle East African journal of ophthalmology
2023

Uveal effusion syndrome following COVID-19 vaccination.

American journal of ophthalmology case reports
2023

Unique phenotypic-genotypic correlation in Saudi patients with ALMS1 mutations.

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society
2024

Ocular manifestations in Koolen-de Vries syndrome: an international study.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2023

Purple Corn Extract Improves Dry Eye Symptoms in Models Induced by Desiccating Stress and Extraorbital Lacrimal Gland Excision.

Nutrients
2023

Management of Bilateral Diffuse Uveal Melanocytic Proliferation (BDUMP)-A Case Report.

Medicina (Kaunas, Lithuania)
2024

Pigmented paravenous retinochoroidal atrophy in an infant with unilateral macular involvement: case report and literature review.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2024

CLINICAL CHARACTERISTICS, TREATMENT MODALITIES, AND THEIR ASSOCIATION WITH LONG-TERM VISUAL OUTCOMES IN UVEAL EFFUSION SYNDROME.

Retina (Philadelphia, Pa.)
2024

A PEDF peptide mimetic effectively relieves dry eye in a diabetic murine model by restoring corneal nerve, barrier, and lacrimal gland function.

The ocular surface
2023

Multimodal photoacoustic microscopy, optical coherence tomography, and fluorescence imaging of USH2A knockout rabbits.

Scientific reports
2024

Differential diagnosis of myopic choroidal neovascularization (mCNV): insights from multimodal imaging and treatment implications.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2023

Deletion of IFT20 exclusively in the RPE ablates primary cilia and leads to retinal degeneration.

PLoS biology
2024

Torpedo maculopathy in Costello syndrome.

Journal francais d'ophtalmologie
2023

CURRENT VIEW OF THE SPECTRUM OF PACHYCHOROID DISEASES. A REVIEW.

Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti
2023

A 30-Year-Old Man with a Recent History of COVID-19 Requiring Treatment with Corticosteroids Who Developed Bilateral Central Serous Chorioretinopathy During 7-Month Follow-Up.

The American journal of case reports
2023

FLOTCH Syndrome: A Case of Leukonychia Totalis and Multiple Pilar Cysts.

Cutis
2024

SS OCT and OCT-A Findings in Convalescent Inactive Vogt-Koyanagi-Harada Disease.

Ocular immunology and inflammation
2025

Early pigment spot segmentation and classification from iris cellular image analysis with explainable deep learning and multiclass support vector machine.

Biochemistry and cell biology = Biochimie et biologie cellulaire
2023

[Diagnosis of a case with Hermansky-Pudlak syndrome type 5 through high-throughput sequencing and a literature review].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2023

Cohen Syndrome: Novel VPS13B Genetic Variants in a Male Portuguese Patient with Pigmentary Retinopathy.

Case reports in ophthalmology
2023

An Update on Multimodal Ophthalmological Imaging of Diffuse Choroidal Hemangioma in Sturge-Weber Syndrome.

Vision (Basel, Switzerland)

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Doenças relacionadas

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Ordenadas pelo número de sintomas em comum.

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. Evaluation of Melanin Changes in Acute Vogt-Koyanagi-Harada Disease Using Polarization-Sensitive Optical Coherence Tomography.
    Investigative ophthalmology &amp; visual science· 2026· PMID 41533903mais citado
  2. Exploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health.
    Cellular and molecular life sciences : CMLS· 2026· PMID 41528484mais citado
  3. Congenital Optic Nerve Anomalies and Associated Systemic Conditions.
    International ophthalmology clinics· 2026· PMID 41870099mais citado
  4. NON-INFECTIOUS POSTERIOR UVEITIDES - Atypicals, Variants, and Masquerades: the jungle of differential diagnosis.
    American journal of ophthalmology· 2026· PMID 41861897mais citado
  5. Paraneoplastic vitelliform retinopathy successfully treated with intravitreal dexamethasone implants.
    American journal of ophthalmology case reports· 2026· PMID 41852360mais citado
  6. Noninfectious Uveitis Syndromes.
    Adv Exp Med Biol· 2025· PMID 40736853recente
  7. Spaceflight Associated Neuro-Ocular Syndrome as a Potential Variant of Venous Overload Choroidopathy.
    Aerosp Med Hum Perform· 2025· PMID 40643392recente
  8. Artificial Intelligence Deep Learning Models to Predict Spaceflight Associated Neuro-Ocular Syndrome.
    Am J Ophthalmol· 2025· PMID 40505849recente
  9. Syndromic forms of inherited retinal dystrophies: a comprehensive molecular diagnosis of consanguineous Pakistani families using capture panel sequencing.
    Mol Vis· 2025· PMID 40384762recente
  10. Reabsorption of vitreomacular traction syndrome-related acquired vitelliform lesions after pars plana vitrectomy.
    Int Ophthalmol· 2025· PMID 39964559recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2521(Orphanet)
  2. MONDO:0016750(MONDO)
  3. GARD:8623(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q5641058(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 microcefalia-fenda palatina-pigmentação da retina anormal
Compêndio · Raras BR

Síndrome de microcefalia-fenda palatina-pigmentação da retina anormal

ORPHA:2521 · MONDO:0016750
Prevalência
<1 / 1 000 000
Casos
3 casos conhecidos
Herança
Unknown
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C2930954
Wikidata
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