Raras
Buscar doenças, sintomas, genes...
Síndrome de microcórnea – atrofia coriorretiniana miópica - telecanto
ORPHA:369970CID-10 · Q15.8CID-11 · 9B61OMIM 615458DOENÇA RARA
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Síndrome rara autossômica recessiva associada ao gene ADAMTS18. Caracteriza-se por microcórnea, atrofia coriorretiniana com miopia, telecanto, nariz largo e orelhas com rotação posterior. Pode apresentar catarata subcapsular posterior.

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
14
pacientes catalogados
Início
Childhood
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q15.8
🇧🇷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
3 sintomas
👁️
Olhos
3 sintomas
👂
Ouvidos
1 sintomas

+ 2 sintomas em outras categorias

Características mais comuns

100%prev.
Telecanto
Frequência: 8/8
100%prev.
Microcórnea
Frequência: 8/8
100%prev.
Orelhas com rotação posterior
Frequência: 8/8
100%prev.
Miopia
Frequência: 8/8
100%prev.
Atrofia corioretiniana
Frequência: 8/8
38%prev.
Ponta nasal larga
Frequência: 3/8
9sintomas
Muito frequente (5)
Frequente (1)
Ocasional (2)
Sem dados (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 9 características clínicas mais associadas, ordenadas por frequência.

TelecantoTelecanthus
Frequência: 8/8100%
MicrocórneaMicrocornea
Frequência: 8/8100%
Orelhas com rotação posteriorPosteriorly rotated ears
Frequência: 8/8100%
MiopiaMyopia
Frequência: 8/8100%
Atrofia corioretinianaChorioretinal atrophy
Frequência: 8/8100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202552 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

Genes associados

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

ADAMTS18A disintegrin and metalloproteinase with thrombospondin motifs 18Disease-causing germline mutation(s) inDesconhecido
LOCALIZAÇÃO

Secreted, extracellular space, extracellular matrix

VIAS BIOLÓGICAS (1)
Degradation of the extracellular matrix
MECANISMO DE DOENÇA

Microcornea, myopic chorioretinal atrophy, and telecanthus

A ocular syndrome characterized by microcornea and myopic chorioretinal atrophy. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. In addition to ocular findings, some patients have telecanthus and posteriorly rotated ears.

OUTRAS DOENÇAS (1)
microcornea-myopic chorioretinal atrophy
HGNC:17110UniProt:Q8TE60

Variantes genéticas (ClinVar)

116 variantes patogênicas registradas no ClinVar.

🧬 ADAMTS18: NM_199355.4(ADAMTS18):c.1144A>T (p.Arg382Ter) ()
🧬 ADAMTS18: NM_199355.4(ADAMTS18):c.2704C>T (p.Arg902Ter) ()
🧬 ADAMTS18: NM_199355.4(ADAMTS18):c.2323C>T (p.Arg775Ter) ()
🧬 ADAMTS18: NM_199355.4(ADAMTS18):c.2194A>T (p.Lys732Ter) ()
🧬 ADAMTS18: NM_199355.4(ADAMTS18):c.316C>T (p.Gln106Ter) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

3 vias biológicas associadas aos genes desta condição.

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 microcórnea – atrofia coriorretiniana miópica - telecanto

🗺️

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

Pathogenic Variants in MPDZ are Associated with a Syndromic Neurodevelopmental Disorder: A Case Report and Review of the Literature.

Journal of child neurology2026 Feb

Pathogenic variants in MPDZ are typically associated with congenital hydrocephalus. We report on siblings who present with more complex central nervous system malformations and defects in cardiovascular, ocular, and respiratory systems. Phenotyping of the proband revealed aortic coarctation, bicuspid aortic valve, partial anomalous pulmonary venous return, ventricular septal defect, Dandy-Walker malformation, along with subependymal gray matter heterotopia, megalocornea, and chorioretinal punctate lesions. Prenatal phenotyping of the proband's now deceased brother noted left-sided diaphragmatic hernia, a single cardiac ventricle of right ventricular morphology, aortic and mitral valve hypoplasia with aortic coarctation, ventriculomegaly, and mega cisterna magna. Whole genome sequencing identified a homozygous likely pathogenic canonical splice site variant in MPDZ, c.2650-1G>A in both siblings. These siblings present with features suggesting that MPDZ pathogenicity may be associated with a more complex syndromic neurodevelopmental phenotype with both central nervous system and non-central nervous system features. We speculate that MPDZ influences common morphogenetic pathways underlying these relationships.

#2

An unusual case of Kabuki Syndrome with retinal ischaemia and neovascular glaucoma.

European journal of ophthalmology2026 Mar 23

PurposeThis is the first report that describes a case of Kabuki syndrome with peripheral retinal ischemia and neovascular glaucoma.Case reportA 44-year-old woman with genetically confirmed Kabuki syndrome was referred with bilateral elevated intraocular pressure (circa 50mmHG in both eyes), and longstanding poor vision and high myopia (6/60 vision right, counting fingers left eye). Slit-lamp examination revealed bilateral microcornea (10 mm), right eye angle neovascularization, and 3 mm left eye hyphema associated with 360° rubeosis iridis confirmed on fluorescein angiography. Fundoscopy showed a cup-to-disc ratio of 0.5 in right eye and significant peripapillary chorioretinal atrophy, with coloboma-like features in left eye. Widefield fluorescein angiography showed asymmetrical peripheral retinal ischaemia, with telangiectatic mid-peripheral vessels, which leaked in the late phase of fluorescein angiography. A diagnosis of secondary neovascular glaucoma due to ischaemic retinal vasculopathy was made.ConclusionThis case expands the known ocular phenotype of Kabuki syndrome to include peripheral retinal ischaemia and neovascular glaucoma.. It highlights the importance of early, comprehensive ophthalmologic assessment and multidisciplinary management in patients with Kabuki syndrome, especially when complicated by vision-threatening conditions like neovascular glaucoma.

#3

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.

#4

New insights into Oliver-McFarlane syndrome: adrenocortical hypofunction and variable expressivity in a Chinese sibling pair.

Journal of pediatric endocrinology &amp; metabolism : JPEM2026 Mar 19

Oliver-McFarlane syndrome (OMS) is an extremely rare autosomal recessive disorder primarily characterized by the triad of trichomegaly, congenital hypopituitarism, and chorioretinal degeneration. This study aims to report the clinical and genetic characteristics of the first identified Chinese sibling pair with OMS and to expand the known phenotypic spectrum by documenting a novel clinical feature. We report two Chinese siblings with OMS harboring identical compound heterozygous PNPLA6 variants: c.2990C>T (p.Ser997Leu) and c.3367G>A (p.Gly1123Arg). Both presented with growth hormone deficiency (GHD), short stature, retinitis pigmentosa, and characteristic hair anomalies. Notably, the elder brother exhibited intellectual disability and secondary adrenocortical insufficiency - a feature not previously documented in OMS. In contrast, the younger sister had normal adrenal function and higher cognitive levels. Both patients showed a significant positive growth response to recombinant human growth hormone (rhGH) therapy. This study expands the phenotypic spectrum of PNPLA6-associated OMS to include adrenocortical insufficiency and highlights significant intrafamilial variability.

#5

Relentless placoid chorioretinitis associated with Crohn's disease and secondary MEWDS: a case report.

American journal of ophthalmology case reports2026 Jun

To describe a rare case of relentless placoid chorioretinitis (RPC) associated with Crohn's disease, complicated by secondary multiple evanescent white dot syndrome (MEWDS). A 21-year-old man presented with acute, painless vision loss in the right eye. Multimodal retinal imaging showed numerous active and atrophic placoid lesions involving both the posterior pole and the retinal periphery, consistent with RPC. Systemic evaluation revealed Crohn's disease. Despite intravenous and oral corticosteroids, new extramacular lesions developed and fundus autofluorescence showed stippling compatible with secondary MEWDS. Introduction of anti-tumor necrosis factor (anti-TNF) therapy for Crohn's disease stabilized ocular inflammation. Visual prognosis remained poor in the affected eye and preserved in the fellow eye. This case highlights an association between RPC and Crohn's disease and supports an autoimmune mechanism. Early systemic evaluation and timely initiation of corticosteroid-sparing immunomodulatory therapy may help prevent recurrences and vision-threatening complications.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

An unusual case of Kabuki Syndrome with retinal ischaemia and neovascular glaucoma.

European journal of ophthalmology
2026

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

American journal of ophthalmology
2026

New insights into Oliver-McFarlane syndrome: adrenocortical hypofunction and variable expressivity in a Chinese sibling pair.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2026

Relentless placoid chorioretinitis associated with Crohn's disease and secondary MEWDS: a case report.

American journal of ophthalmology case reports
2026

Fetal Neuroimaging in Aicardi Syndrome: A Case Report and Literature Review.

Cureus
2026

Expanded Phenotype of PAX2-Related Papillorenal Syndrome: A Case Featuring FSGS, Atypical Retinopathy, Cerebellar Hypoplasia, and ADHD.

Clinical case reports
2025

Microphthalmia and Infantile Spasms Leading to the Diagnosis of Aicardi Syndrome: A Case Report and Literature Review of a Rare Entity.

Cureus
2025

Incomplete Vogt-Koyanagi-Harada Syndrome Presenting With Sunset Glow Fundus, Vitiligo, Preserved Vision, and Incidental CA 19-9 Elevation.

Cureus
2026

Clinical and clinicopathologic features of an undifferentiated resolving uveitis in kittens similar to that seen with feline infectious peritonitis.

Journal of the American Veterinary Medical Association
2026

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

American journal of ophthalmology
2025

Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approach.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2025

Further evidence for a wide phenotypic and mutational spectrum of Cohen syndrome: case report and literature review.

Journal of applied genetics
2025

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

Frontiers in genetics
2026

Multiple evanescent white dot syndrome: Typical, atypical, and secondary variants.

Progress in retinal and eye research
2026

Expanding the Phenotype of Syndromic SLC30A9 -Associated Disease.

American journal of medical genetics. Part A
2025

Ocular Findings in Siblings With Alagille Syndrome: A Report of Two Cases.

Cureus
2026

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

Ophthalmic genetics
2026

Idiopathic Multifocal Choroiditis/Punctate Inner Choroidopathy as a Secondary Inflammatory Reaction to Lacquer Cracks: A Structural and Temporal Analysis.

American journal of ophthalmology
2025

Pigmented chorioretinal scar in a child with blue rubber-bleb nevus syndrome.

Eye (London, England)
2025

Post-coronavirus disease bilateral endogenous fungal endophthalmitis with full visual acuity recovery: a case report.

Journal of medical case reports
2026

Peripapillary Retinoschisis: The Expanded Spectrum and New Insights From Multimodal Imaging.

American journal of ophthalmology
2025

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

Frontiers in genetics
2025

[Non-ROP ophthalmological screening in the Neonatal Intensive Care Unit at the University of Szeged].

Orvosi hetilap
2025

Relentless Placoid Chorioretinitis: A Differential Diagnosis and Management Approach in a Challenging Case.

Cureus
2025

Paediatric Ocular Sarcoidosis - Clinical Profiles from a Tertiary Eye Care Centre in South India.

Ocular immunology and inflammation
2025

Low Occurrence of Ocular Adverse Events after CAR-T Cell Therapy.

Ocular oncology and pathology
2025

Systemic Immunosuppression and Secondary Choroidal Neovascularisation in Patients with Punctate Inner Chorioretinopathy.

Ocular immunology and inflammation
2025

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

Cureus
2026

Pathogenic Variants in MPDZ are Associated with a Syndromic Neurodevelopmental Disorder: A Case Report and Review of the Literature.

Journal of child neurology
2025

Herpetic gingivostomatitis mimicking Stevens-Johnson syndrome in an immunosuppressed adolescent with idiopathic chorioretinitis.

IDCases
2025

Clinical outcomes of cyclophosphamide therapy in relentless placoid choroiditis: A descriptive case series.

Indian journal of ophthalmology
2025

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

American journal of ophthalmology
2025

Clinical characteristics of multiple evanescent white dot syndrome with poor visual prognosis in Japanese patients.

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

CHARGE Syndrome in a Six-Month-Old Male Infant: A Case Report.

Cureus
2025

Multiple Evanescent White Dot Syndrome as Epiphenomenon of Infectious Chorioretinopathies.

Ocular immunology and inflammation
2025

Understanding the relationship between intracranial pressure and spaceflight associated neuro-ocular syndrome (SANS): a systematic review.

NPJ microgravity
2025

Concurrent uveitis in monozygotic twins in the context of systemic sarcoidosis.

Journal of ophthalmic inflammation and infection
2025

Novel KIF11 Mutation Associated with Microcephaly, Chorioretinopathy and Impaired Intellectual Development: 20 Years of Follow-Up.

Children (Basel, Switzerland)
2025

No optic pit macular retinoschisis associated with macular hole and chorioretinal scars: A case report.

European journal of ophthalmology
2025

Teaching NeuroImage: Chorioretinal Atrophy and Neuroimaging Findings in Boucher-Neuhauser Syndrome.

Neurology
2025

Bilateral macular colobomata: expanded phenotype of PCARE/C2ORF71.

Ophthalmic genetics
2025

Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases.

Clinical genetics
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

Bacillary layer detachment in acute Vogt-Koyanagi-Harada disease: an early predictor of long-term complications in a Brazilian cohort.

International journal of retina and vitreous
2024

Lamellar cataract in a child with Alagille syndrome.

The National medical journal of India
2025

Aicardi syndrome: Clinical spectrum of a rare disorder.

Journal of family medicine and primary care
2025

A case of primary intraocular B-cell lymphoma masquerading alongside varicella-zoster virus retinitis.

American journal of ophthalmology case reports
2025

Intravitreal Corticosteroids in the Management of Refractory Macular Edema in Birdshot Chorioretinopathy.

International medical case reports journal
2025

Bilateral Iris and Chorioretinal Colobomas in a Child With Suspected Lamb-Shaffer Syndrome.

Ophthalmic surgery, lasers &amp; imaging retina
2025

Congenital Oropouche in Humans: Clinical Characterization of a Possible New Teratogenic Syndrome.

Viruses
2025

Retinopathy associated with MELAS syndrome. A case report.

Archivos de la Sociedad Espanola de Oftalmologia
2025

The influence of malnutrition-sarcopenia syndrome on chorioretinal microvasculature using optical coherence tomography angiography.

Photodiagnosis and photodynamic therapy
2025

[Cytomegalovirus chorioretinitis in human immunodeficiency virus (case study)].

Vestnik oftalmologii
2025

Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes.

European journal of human genetics : EJHG
2025

Spaceflight Associated Neuro-ocular Syndrome (SANS) and its countermeasures.

Progress in retinal and eye research
2025

Characterization of Syphilitic Chorioretinitis as a White Dot Syndrome with Multimodal Imaging: Case Series.

Diagnostics (Basel, Switzerland)
2025

Expansion of genotypic and phenotypic findings in ADAMTS18-related ocular pathology.

American journal of ophthalmology case reports
2025

Peripapillary pachychoroid syndrome, a different pathway in venous remodelling of the choroidal vasculature.

American journal of ophthalmology case reports
2025

COL2A1 Mutation Causing Pediatric Macular Chorioretinal Atrophy Associated With Stickler Syndrome.

Journal of vitreoretinal diseases
2024

The Spectrum of Ocular Diseases in the Onchocerciasis-Endemic Focus of Raga in South Sudan.

Research and reports in tropical medicine
2024

Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases.

Orphanet journal of rare diseases
2025

The optic nerve in spaceflight: novel concepts in the pathogenesis of optic disc edema in microgravity.

Current opinion in neurology
2025

Reduced contrast sensitivity function and outer retina thickness in convalescent Vogt-Koyanagi-Harada disease.

Eye (London, England)
2024

Clinical and Molecular Findings in Patients with Knobloch Syndrome 1: Case Series Report.

Genes
2025

Advances in the Study of the Pathogenesis of Vogt-Koyanagi- Harada Syndrome.

Current molecular medicine
2024

Clinical and Genetic Characteristics of Patients with Peripheral Retinal Flecks in Koreans.

Korean journal of ophthalmology : KJO
2024

Bardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature.

Ophthalmic genetics
2025

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

Retinal cases &amp; brief reports
2024

A Boy With KIF11-Associated Disorder Along With ADHD and ASD: Collaboration Between Paediatrics and Child Psychiatry.

Case reports in psychiatry
2024

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

Genes
2025

Diagnosis of TET3-Related Beck-Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a DNA Methylation Signature.

American journal of medical genetics. Part A
2024

A novel large multi-gene deletion in syndromic choroideremia.

Ophthalmic genetics
2024

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)- the new lacunae: a case report.

BMC ophthalmology
2025

VASCULAR CHANGES AND IRREVERSIBLE COMPLICATIONS IN 120° FUNDUS USING WIDEFIELD SWEPT-SOURCE OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY IN VOGT-KOYANAGI-HARADA DISEASE.

Retina (Philadelphia, Pa.)
2024

Endogenous endophthalmitis secondary to Lemierre's Syndrome originating from pharyngotonsillitis.

Journal of ophthalmic inflammation and infection
2024

Multimodal chorioretinal imaging in Wyburn-Mason syndrome: A case report.

Heliyon
2024

Manifestations of COVID-19 in the posterior eye segment - Up-to-date.

Oman journal of ophthalmology
2024

Early and Late Treatment Influence on Chorioretinal Microvasculature in Vogt-Koyanagi-Harada Patients Using Optical Coherence Tomography Angiography.

Translational vision science &amp; technology
2024

Chorioretinopathy presenting as bitemporal hemianopia.

Journal of the neurological sciences
2024

Imaging in spaceflight associated neuro-ocular syndrome (SANS): Current technology and future directions in modalities.

Life sciences in space research
2024

Severe Spaceflight-Associated Neuro-Ocular Syndrome in an Astronaut With 2 Predisposing Factors.

JAMA ophthalmology
2025

PUNCTATE INNER CHOROIDOPATHY AFTER PARS PLANA VITRECTOMY FOR HIGH MYOPIC FULL-THICKNESS MACULAR HOLE.

Retinal cases &amp; brief reports
2024

EXPLORING THE CHALLENGES OF DISTINGUISHING PUNCTATE INNER CHOROIDOPATHY FROM MULTIFOCAL CHOROIDITIS AND PANUVEITIS.

Retina (Philadelphia, Pa.)
2024

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

Ophthalmic genetics
2024

Intraretinal hemorrhages and detailed retinal phenotype of three patients with Alagille syndrome.

Ophthalmic genetics
2024

Radius-Maumenee syndrome-associated glaucoma, a therapeutic challenge: A case report.

European journal of ophthalmology
2024

Paraneoplastic ocular sarcoid-like reaction in the setting of pulmonary sarcoid-like reaction and lung adenocarcinoma: A case report and literature review.

American journal of ophthalmology case reports
2024

Employing digital PCR for enhanced detection of perinatal Toxoplasma gondii infection: A cross-sectional surveillance and maternal-infant outcomes study in El Salvador.

PLoS neglected tropical diseases
2024

Continuous epileptiform discharges are associated with worse neurodevelopmental findings in a congenital Zika syndrome prospective cohort.

Seizure
2024

Foveal photoreceptor atrophy, persistent fetal vasculature, congenital cataracts, and microphthalmia in a pediatric patient with BCOR-associated oculo-facio-cardio-dental (OFCD) syndrome.

American journal of ophthalmology case reports
2024

Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.

Molecular biology reports
2024

Wagner syndrome: Novel VCAN variant and prophylactic management with encircling band and retinopexy.

American journal of ophthalmology case reports
2023

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

Acta dermatovenerologica Croatica : ADC
2024

Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis.

American journal of medical genetics. Part A
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

Macular atrophy and focal choroidal excavation in a patient with JAG1- related alagille syndrome.

Ophthalmic genetics
2024

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

Ophthalmology science
2025

BOUCHER-NEUHAUSER SYNDROME: CHORIORETINAL CHANGES IN A SINGLE CASE OVER TIME.

Retinal cases &amp; brief reports
2024

Manifestations of systemic disease in the retina and fundus of cats and dogs.

Frontiers in veterinary science
2024

Prenatal and Postnatal Ocular Abnormalities Following Congenital Zika Virus Infections: A Systematic Review.

Ocular immunology and inflammation
2023

ADAMTS18-related anterior segment dysgenesis mistaken as Axenfeld-Rieger syndrome.

Taiwan journal of ophthalmology
2024

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

BMC ophthalmology
2024

Intraocular sarcoid-like reaction in patients with chronic lymphocytic leukemia.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2024

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

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2023

Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child.

Oman journal of ophthalmology
2024

Peripapillary fluid: Obvious and not so obvious!

Survey of ophthalmology
2023

Teaching Neuroimage - Aicardi Syndrome: A Triad of Epileptic Spasms, Agenesis of Corpus Callosum, and Chorio-Retinal Lacunae.

Neurology India
2023

PNPLA6 disorders: what's in a name?

Ophthalmic genetics
2024

Floating-Harbor syndrome with chorioretinal colobomas.

Ophthalmic genetics
2023

Toxoplasmosis mimicking CMV chorioretinitis in newly diagnosed PLWH: a case report.

Le infezioni in medicina
2024

Diagnosis and Characteristics of Presentation of Tubulointerstitial Nephritis and Uveitis Syndrome During the COVID-2019 Pandemic.

Ocular immunology and inflammation
2024

Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant.

Ophthalmology. Retina
2023

Aicardi syndrome in a Nigerian female child: A case report and literature review of a rare neuro-developmental disorder from North-Western Nigeria.

Journal of the National Medical Association
2023

PUNCTATE INNER PACHYCHOROIDOPATHY: Demographic and Clinical Features of Inner Choroidal Inflammation in Eyes with Pachychoroid Disease.

Retina (Philadelphia, Pa.)
2023

Aicardi Syndrome Is a Genetically Heterogeneous Disorder.

Genes
2024

Ocular manifestations and clinical outcomes in Tubulointerstitial Nephritis and Uveitis Syndrome (TINU).

Eye (London, England)
2023

SOLITARY PUNCTATE CHORIORETINITIS: A Unique Subtype of Punctate Inner Choroidopathy.

Retina (Philadelphia, Pa.)
2024

MULTIMODAL RETINAL IMAGING FINDINGS IN HARDIKAR SYNDROME.

Retinal cases &amp; brief reports
2023

Challenges in posterior uveitis-tips and tricks for the retina specialist.

Journal of ophthalmic inflammation and infection
2023

Latest advances in white spot syndromes: New findings and interpretations.

Progress in retinal and eye research
2023

Microcephaly and Chorioretinopathy Relevance as a Differential Diagnosis.

Diagnostics (Basel, Switzerland)
2023

Multimodal imaging of an acute presentation of ocular histoplasmosis syndrome in an immunocompetent patient.

American journal of ophthalmology case reports
2023

Blue-Light Fundus Autofluorescence (BAF), an Essential Modality for the Evaluation of Inflammatory Diseases of the Photoreceptors: An Imaging Narrative.

Diagnostics (Basel, Switzerland)
2023

Alterations in the optic nerve and retina in patients with COVID-19. A theoretical review.

Archivos de la Sociedad Espanola de Oftalmologia
2023

Lens Coloboma: A Rare Association of Congenital Rubella Syndrome.

Cureus
2023

[Acute posterior multifocal placoid pigment epitheliopathy, serpiginous choroiditis and related diseases].

Journal francais d'ophtalmologie
2024

Enlarging aneurysm with paracentral acute middle maculopathy in idiopathic retinal vasculitis, aneurysms and neuroretinitis (IRVAN) - a case report.

European journal of ophthalmology
2023

Risk of adverse pregnancy and infant outcomes associated with prenatal Zika virus infection: a post-epidemic cohort in Central-West Brazil.

Scientific reports
2024

Clinical Outcomes of Observed and Treated Acute Posterior Multifocal Placoid Pigment Epitheliopathy and Relentless Placoid Chorioretinitis.

Ocular immunology and inflammation
2023

Insights Regarding Optometric Findings of CHARGE Syndrome in a Pediatric Low Vision Clinic.

Optometry and vision science : official publication of the American Academy of Optometry
2023

A Chinese family with cat eye syndrome and abnormality of eye movement: First case report.

Frontiers in pediatrics
2023

Clinical Spectrum, Radiological Findings, and Outcomes of Severe Toxoplasmosis in Immunocompetent Hosts: A Systematic Review.

Pathogens (Basel, Switzerland)
2023

Spontaneous ciliary body detachment in a Marfan patient: A case of personalized management.

American journal of ophthalmology case reports
2023

Boucher Neuhäuser Syndrome in Twins: A Rare and Unusual Cause of Cerebellar Ataxia.

Movement disorders clinical practice
2023

Toxoplasmic maculopathy with bacillary layer detachment in a pediatric patient.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2023

Microcephaly and chorioretinopathy associated with TUBGCP4: a case report and a review of the literature.

Ophthalmic genetics
2023

Clinical and Osteopetrosis-Like Radiological Findings in Patients with Leukocyte Adhesion Deficiency Type III.

Journal of clinical immunology
2023

Topographic patterns of retinal lesions in multiple evanescent white dot syndrome.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2022

[Multimodal imaging in toxoplasmic external punctate retinitis: about a case].

The Pan African medical journal
2023

Beaded Pearls Appearance in Syphilitic Chorioretinitis.

Ocular immunology and inflammation
2024

Chorioretinal Findings in a Patient with New-Onset Systemic Lupus Erythematosus and Antiphospholipid Syndrome after Stillbirth Associated with Pre eclampsia.

Ocular immunology and inflammation
2023

Bilateral neuroretinitis and membranous lupus nephritis: 2 infrequent manifestations in juvenile lupus.

Archivos de la Sociedad Espanola de Oftalmologia
2024

THREE-YEAR FOLLOW-UP OF PROGRESSIVE CHORIORETINAL ATROPHY IN ATYPICAL ALAGILLE SYNDROME: A CASE REPORT.

Retinal cases &amp; brief reports
2023

A case of Aicardi syndrome associated with duplication event of Xp22 including SHOX.

Ophthalmic genetics
2024

Choroidal Involvement in a Case of Viral Retinitis.

Ocular immunology and inflammation
2022

A Rare Presentation of Polygenic Inheritance Manifesting As Congenital Rubella Syndrome: A Case Report.

Cureus
2023

Spaceflight associated neuro-ocular syndrome: proposed pathogenesis, terrestrial analogues, and emerging countermeasures.

The British journal of ophthalmology
2022

Ocular features in Aicardi syndrome: A case report.

Medicine
2023

Incidence and Progression of Chorioretinal Folds During Long-Duration Spaceflight.

JAMA ophthalmology
2023

A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome.

American journal of medical genetics. Part A
2022

Kinesin-5 Eg5 is essential for spindle assembly, chromosome stability and organogenesis in development.

Cell death discovery
2022

COMPARISON OF PRIMARY AND SECONDARY FORMS OF MULTIPLE EVANESCENT WHITE DOT SYNDROME.

Retina (Philadelphia, Pa.)
2022

Retinal telangiectasia-like lesions in a 15-year-old female with Hereditary hemorrhagic telangiectasia - a case report.

BMC ophthalmology
2022

Case report: Visual snow as the presenting symptom in multiple evanescent white dot syndrome. Two case reports and literature review.

Frontiers in neurology
2022

PUNCTATE INNER CHOROIDOPATHY-LIKE REACTIONS IN UNRELATED RETINAL DISEASES.

Retina (Philadelphia, Pa.)
2022

Joubert Syndrome with a Rare Ocular Phenotype: Coloboma with Retrobulbar Cysts - A Case Report.

Case reports in ophthalmology
2022

Extended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia.

Children (Basel, Switzerland)
2022

Atypical Focal Choroidal Excavation with Macular Hole in a Patient with Alagille Syndrome.

Case reports in ophthalmological medicine
2022

Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome.

Italian journal of pediatrics
2023

Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome.

The Journal of pediatrics
2023

Acute macular neuroretinopathy in a patient with birdshot chorioretinopathy after intravitreal triamcinolone suspension injection.

European journal of ophthalmology
2022

Fundus Changes in the Offspring of Mothers With Confirmed Zika Virus Infection During Pregnancy in French Guiana, Guadeloupe, and Martinique, French West Indies.

JAMA ophthalmology
2022

Idiopathic Multifocal Choroiditis and Punctate Inner Choroidopathy - Evaluation of Risk Factors for Increased Relapse Rate: A 2-Year Prospective Observational Cohort Study.

Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde
2022

CHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia.

Italian journal of pediatrics
2022

Prevalence of individual brain and eye defects potentially related to Zika virus in pregnancy in 22 U.S. states and territories, January 2016 to June 2017.

Birth defects research
2023

Use of optical coherence tomography angiography in the uveitis clinic.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2022

A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation.

Metabolic brain disease
2022

Multisystem Inflammatory Syndrome in Adults and Severe Toxoplasmosis: Similar Clinical Presentations, Potentially Severe Outcomes.

Open forum infectious diseases
2022

Diagnostic approach to Aicardi syndrome: A case report.

Radiology case reports
2022

A Rare Case of Didanosine-Induced Mid-Peripheral Chorioretinal Atrophy Identified Incidentally 11 Years after the Drug Cessation.

Medicina (Kaunas, Lithuania)
2022

Pathogenesis and Manifestations of Zika Virus-Associated Ocular Diseases.

Tropical medicine and infectious disease
2022

Novel chorioretinal findings in two siblings with mucopolysaccharidosis type VI.

Ophthalmic genetics
2022

Ocular findings of congenital Zika virus infection with microcephaly.

International ophthalmology
2022

Uveomeningeal syndrome presenting with bilateral optic disc edema and multiple evanescent white dots syndrome (MEWDS).

American journal of ophthalmology case reports
2022

Mechanisms, Pathophysiology and Current Immunomodulatory/Immunosuppressive Therapy of Non-Infectious and/or Immune-Mediated Choroiditis.

Pharmaceuticals (Basel, Switzerland)
2022

PNPLA6/NTE, an Evolutionary Conserved Phospholipase Linked to a Group of Complex Human Diseases.

Metabolites
2023

Wide-field Fundus Imaging and Fluorescein Angiography Findings in Various Pseudoretinoblastoma Conditions.

Journal of pediatric ophthalmology and strabismus
2023

Bilateral Ampiginous Choroiditis following Confirmed SARS-CoV-2 Infection.

Ocular immunology and inflammation
2022

A rare case of bilateral vitreoretinopathy of Aicardi syndrome.

American journal of ophthalmology case reports
2022

Ultra-Widefield Fundus Fluorescein Angiography Findings in Patients with Fuchs' Uveitis Syndrome.

Advanced biomedical research
2022

Multimodal retinal imaging of m.3243A>G associated retinopathy.

American journal of ophthalmology case reports
2023

"Acute Bilateral Neuroretinitis and Panuveitis in A Patient with Coronavirus Disease 2019: A Case Report"- Few Comments.

Ocular immunology and inflammation
2022

Multiple evanescent white dot syndrome-like reaction associated with ipilimumab and nivolumab immune checkpoint inhibitor therapy for metastasis of choroidal melanoma.

American journal of ophthalmology case reports
2022

Identification of Novel Compound Heterozygous Variants of the PNPLA6 Gene in Boucher-Neuhäuser Syndrome.

Frontiers in genetics
2022

Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome.

Molecular genetics &amp; genomic medicine
2022

Prevalence of complications in eyes with nanophthalmos or microphthalmos: protocol for a systematic review and meta-analysis.

Systematic reviews
2023

Enhanced S-Cone Syndrome Masquerading as TORCH in an Infant and a Toddler.

Ocular immunology and inflammation
2022

Bilateral Panuveitis Mimicking Vogt-Koyanagi-Harada Disease following the First Dose of ChAdOx1 nCoV-19 Vaccine.

Ocular immunology and inflammation
2022

A case report of isolated primary herpes-simplex virus neuroretinitis in an immunocompetent adult.

BMC ophthalmology
2021

Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature.

Frontiers in neurology
2022

Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy.

Ophthalmic genetics
2021

Acute retinal necrosis: time to consider double dose of Foscarnet in the first 72 hours.

Romanian journal of ophthalmology
2022

Clinical Manifestations and Implications of Nonneoplastic Uveitis Masquerade Syndrome.

American journal of ophthalmology
2021

Novel BMP4 Truncations Resulted in Opposite Ocular Anomalies: Pathologic Myopia Rather Than Microphthalmia.

Frontiers in cell and developmental biology
2022

Macular atrophy in JAG1-related Alagille syndrome: a case series.

Ophthalmic genetics
2021

Rare Case of Bilateral Diffuse Uveal Melanocytic Proliferation with Dermal and Mucosal Hyperpigmentations.

Diagnostics (Basel, Switzerland)
2022

Tilted disc syndrome (TDS): New hypotheses for posterior segment complications and their implications in other retinal diseases.

Progress in retinal and eye research
2021

Clinicopathology of non-infectious choroiditis: evolution of its appraisal during the last 2-3 decades from "white dot syndromes" to precise classification.

Journal of ophthalmic inflammation and infection
2021

Increased Choroidal Thickness in Morquio Syndrome.

Case reports in ophthalmology
2021

Neonatal Onset Glaucoma in a Case with Gorlin-Goltz Syndrome: An Unusual Association.

Journal of current glaucoma practice

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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. Pathogenic Variants in MPDZ are Associated with a Syndromic Neurodevelopmental Disorder: A Case Report and Review of the Literature.
    Journal of child neurology· 2026· PMID 40717626mais citado
  2. An unusual case of Kabuki Syndrome with retinal ischaemia and neovascular glaucoma.
    European journal of ophthalmology· 2026· PMID 41870534mais citado
  3. NON-INFECTIOUS POSTERIOR UVEITIDES - Atypicals, Variants, and Masquerades: the jungle of differential diagnosis.
    American journal of ophthalmology· 2026· PMID 41861897mais citado
  4. New insights into Oliver-McFarlane syndrome: adrenocortical hypofunction and variable expressivity in a Chinese sibling pair.
    Journal of pediatric endocrinology &amp; metabolism : JPEM· 2026· PMID 41846525mais citado
  5. Relentless placoid chorioretinitis associated with Crohn's disease and secondary MEWDS: a case report.
    American journal of ophthalmology case reports· 2026· PMID 41778093mais citado
  6. Spaceflight Associated Neuro-ocular Syndrome (SANS) and its countermeasures.
    Prog Retin Eye Res· 2025· PMID 39971096recente
  7. A novel large multi-gene deletion in syndromic choroideremia.
    Ophthalmic Genet· 2024· PMID 39257251recente
  8. Imaging in spaceflight associated neuro-ocular syndrome (SANS): Current technology and future directions in modalities.
    Life Sci Space Res (Amst)· 2024· PMID 39067989recente
  9. Severe Spaceflight-Associated Neuro-Ocular Syndrome in an Astronaut With 2 Predisposing Factors.
    JAMA Ophthalmol· 2024· PMID 39052244recente
  10. Radius-Maumenee syndrome-associated glaucoma, a therapeutic challenge: A case report.
    Eur J Ophthalmol· 2024· PMID 38859765recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:369970(Orphanet)
  2. OMIM OMIM:615458(OMIM)
  3. MONDO:0014195(MONDO)
  4. GARD:17593(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q55784726(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

Compêndio · Raras BR

Síndrome de microcórnea – atrofia coriorretiniana miópica - telecanto

ORPHA:369970 · MONDO:0014195
Prevalência
<1 / 1 000 000
Casos
14 casos conhecidos
Herança
Autosomal recessive
CID-10
Q15.8 · Outras malformações congênitas especificadas do olho
CID-11
Início
Childhood
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C3809567
Wikidata
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