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
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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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
+ 2 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 9 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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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.
Secreted, extracellular space, extracellular matrix
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.
Variantes genéticas (ClinVar)
116 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
3 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
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.
Publicações mais relevantes
Pathogenic Variants in MPDZ are Associated with a Syndromic Neurodevelopmental Disorder: A Case Report and Review of the Literature.
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.
An unusual case of Kabuki Syndrome with retinal ischaemia and neovascular glaucoma.
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.
NON-INFECTIOUS POSTERIOR UVEITIDES - Atypicals, Variants, and Masquerades: the jungle of differential diagnosis.
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.
New insights into Oliver-McFarlane syndrome: adrenocortical hypofunction and variable expressivity in a Chinese sibling pair.
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.
Relentless placoid chorioretinitis associated with Crohn's disease and secondary MEWDS: a case report.
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
Spaceflight Associated Neuro-ocular Syndrome (SANS) and its countermeasures.
A novel large multi-gene deletion in syndromic choroideremia.
Imaging in spaceflight associated neuro-ocular syndrome (SANS): Current technology and future directions in modalities.
Severe Spaceflight-Associated Neuro-Ocular Syndrome in an Astronaut With 2 Predisposing Factors.
Radius-Maumenee syndrome-associated glaucoma, a therapeutic challenge: A case report.
📚 EuropePMCmostrando 200
An unusual case of Kabuki Syndrome with retinal ischaemia and neovascular glaucoma.
European journal of ophthalmologyNON-INFECTIOUS POSTERIOR UVEITIDES - Atypicals, Variants, and Masquerades: the jungle of differential diagnosis.
American journal of ophthalmologyNew insights into Oliver-McFarlane syndrome: adrenocortical hypofunction and variable expressivity in a Chinese sibling pair.
Journal of pediatric endocrinology & metabolism : JPEMRelentless placoid chorioretinitis associated with Crohn's disease and secondary MEWDS: a case report.
American journal of ophthalmology case reportsFetal Neuroimaging in Aicardi Syndrome: A Case Report and Literature Review.
CureusExpanded Phenotype of PAX2-Related Papillorenal Syndrome: A Case Featuring FSGS, Atypical Retinopathy, Cerebellar Hypoplasia, and ADHD.
Clinical case reportsMicrophthalmia and Infantile Spasms Leading to the Diagnosis of Aicardi Syndrome: A Case Report and Literature Review of a Rare Entity.
CureusIncomplete Vogt-Koyanagi-Harada Syndrome Presenting With Sunset Glow Fundus, Vitiligo, Preserved Vision, and Incidental CA 19-9 Elevation.
CureusClinical and clinicopathologic features of an undifferentiated resolving uveitis in kittens similar to that seen with feline infectious peritonitis.
Journal of the American Veterinary Medical AssociationEn Face Optical Coherence Tomography and OCT Angiography in the Pathoanatomy of Inflammatory Macular Disease.
American journal of ophthalmologyRefining 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 SocietyFurther evidence for a wide phenotypic and mutational spectrum of Cohen syndrome: case report and literature review.
Journal of applied geneticsNovel variant in PNPLA6 gene causes Oliver-McFarlane syndrome in a Chinese family: 13 years follow-up.
Frontiers in geneticsMultiple evanescent white dot syndrome: Typical, atypical, and secondary variants.
Progress in retinal and eye researchExpanding the Phenotype of Syndromic SLC30A9 -Associated Disease.
American journal of medical genetics. Part AOcular Findings in Siblings With Alagille Syndrome: A Report of Two Cases.
CureusPhenotypic expansion of retinal abnormalities in folliculin (FLCN) variant-related pathology (Birt-Hogg-Dubé syndrome).
Ophthalmic geneticsIdiopathic Multifocal Choroiditis/Punctate Inner Choroidopathy as a Secondary Inflammatory Reaction to Lacquer Cracks: A Structural and Temporal Analysis.
American journal of ophthalmologyPigmented chorioretinal scar in a child with blue rubber-bleb nevus syndrome.
Eye (London, England)Post-coronavirus disease bilateral endogenous fungal endophthalmitis with full visual acuity recovery: a case report.
Journal of medical case reportsPeripapillary Retinoschisis: The Expanded Spectrum and New Insights From Multimodal Imaging.
American journal of ophthalmologyA novel COL2A1 mutation in a Chinese family with predominantly ocular Stickler syndrome.
Frontiers in genetics[Non-ROP ophthalmological screening in the Neonatal Intensive Care Unit at the University of Szeged].
Orvosi hetilapRelentless Placoid Chorioretinitis: A Differential Diagnosis and Management Approach in a Challenging Case.
CureusPaediatric Ocular Sarcoidosis - Clinical Profiles from a Tertiary Eye Care Centre in South India.
Ocular immunology and inflammationLow Occurrence of Ocular Adverse Events after CAR-T Cell Therapy.
Ocular oncology and pathologySystemic Immunosuppression and Secondary Choroidal Neovascularisation in Patients with Punctate Inner Chorioretinopathy.
Ocular immunology and inflammationUnmasking Acute Posterior Multifocal Placoid Pigment Epitheliopathy (APMPPE) Through Multimodal Imaging: A Case Report.
CureusPathogenic Variants in MPDZ are Associated with a Syndromic Neurodevelopmental Disorder: A Case Report and Review of the Literature.
Journal of child neurologyHerpetic gingivostomatitis mimicking Stevens-Johnson syndrome in an immunosuppressed adolescent with idiopathic chorioretinitis.
IDCasesClinical outcomes of cyclophosphamide therapy in relentless placoid choroiditis: A descriptive case series.
Indian journal of ophthalmologySystematic Review of Clinical Utility of Multimodal Imaging in Noninfectious Posterior Uveitis: MUV Project Report 3.
American journal of ophthalmologyClinical 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 OphthalmologieCHARGE Syndrome in a Six-Month-Old Male Infant: A Case Report.
CureusMultiple Evanescent White Dot Syndrome as Epiphenomenon of Infectious Chorioretinopathies.
Ocular immunology and inflammationUnderstanding the relationship between intracranial pressure and spaceflight associated neuro-ocular syndrome (SANS): a systematic review.
NPJ microgravityConcurrent uveitis in monozygotic twins in the context of systemic sarcoidosis.
Journal of ophthalmic inflammation and infectionNovel KIF11 Mutation Associated with Microcephaly, Chorioretinopathy and Impaired Intellectual Development: 20 Years of Follow-Up.
Children (Basel, Switzerland)No optic pit macular retinoschisis associated with macular hole and chorioretinal scars: A case report.
European journal of ophthalmologyTeaching NeuroImage: Chorioretinal Atrophy and Neuroimaging Findings in Boucher-Neuhauser Syndrome.
NeurologyBilateral macular colobomata: expanded phenotype of PCARE/C2ORF71.
Ophthalmic geneticsCase Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases.
Clinical geneticsA 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 StrabismusBacillary layer detachment in acute Vogt-Koyanagi-Harada disease: an early predictor of long-term complications in a Brazilian cohort.
International journal of retina and vitreousLamellar cataract in a child with Alagille syndrome.
The National medical journal of IndiaAicardi syndrome: Clinical spectrum of a rare disorder.
Journal of family medicine and primary careA case of primary intraocular B-cell lymphoma masquerading alongside varicella-zoster virus retinitis.
American journal of ophthalmology case reportsIntravitreal Corticosteroids in the Management of Refractory Macular Edema in Birdshot Chorioretinopathy.
International medical case reports journalBilateral Iris and Chorioretinal Colobomas in a Child With Suspected Lamb-Shaffer Syndrome.
Ophthalmic surgery, lasers & imaging retinaCongenital Oropouche in Humans: Clinical Characterization of a Possible New Teratogenic Syndrome.
VirusesRetinopathy associated with MELAS syndrome. A case report.
Archivos de la Sociedad Espanola de OftalmologiaThe influence of malnutrition-sarcopenia syndrome on chorioretinal microvasculature using optical coherence tomography angiography.
Photodiagnosis and photodynamic therapy[Cytomegalovirus chorioretinitis in human immunodeficiency virus (case study)].
Vestnik oftalmologiiNovel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes.
European journal of human genetics : EJHGSpaceflight Associated Neuro-ocular Syndrome (SANS) and its countermeasures.
Progress in retinal and eye researchCharacterization of Syphilitic Chorioretinitis as a White Dot Syndrome with Multimodal Imaging: Case Series.
Diagnostics (Basel, Switzerland)Expansion of genotypic and phenotypic findings in ADAMTS18-related ocular pathology.
American journal of ophthalmology case reportsPeripapillary pachychoroid syndrome, a different pathway in venous remodelling of the choroidal vasculature.
American journal of ophthalmology case reportsCOL2A1 Mutation Causing Pediatric Macular Chorioretinal Atrophy Associated With Stickler Syndrome.
Journal of vitreoretinal diseasesThe Spectrum of Ocular Diseases in the Onchocerciasis-Endemic Focus of Raga in South Sudan.
Research and reports in tropical medicineSystematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases.
Orphanet journal of rare diseasesThe optic nerve in spaceflight: novel concepts in the pathogenesis of optic disc edema in microgravity.
Current opinion in neurologyReduced contrast sensitivity function and outer retina thickness in convalescent Vogt-Koyanagi-Harada disease.
Eye (London, England)Clinical and Molecular Findings in Patients with Knobloch Syndrome 1: Case Series Report.
GenesAdvances in the Study of the Pathogenesis of Vogt-Koyanagi- Harada Syndrome.
Current molecular medicineClinical and Genetic Characteristics of Patients with Peripheral Retinal Flecks in Koreans.
Korean journal of ophthalmology : KJOBardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature.
Ophthalmic geneticsSECONDARY MULTIPLE EVANESCENT WHITE DOT SYNDROME IN A PATIENT WITH NORTH CAROLINA MACULAR DYSTROPHY.
Retinal cases & brief reportsA Boy With KIF11-Associated Disorder Along With ADHD and ASD: Collaboration Between Paediatrics and Child Psychiatry.
Case reports in psychiatryMultimodal Evaluation and Management of Wagner Syndrome-Three Patients from an Affected Family.
GenesDiagnosis 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 AA novel large multi-gene deletion in syndromic choroideremia.
Ophthalmic geneticsMicrocephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)- the new lacunae: a case report.
BMC ophthalmologyVASCULAR CHANGES AND IRREVERSIBLE COMPLICATIONS IN 120° FUNDUS USING WIDEFIELD SWEPT-SOURCE OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY IN VOGT-KOYANAGI-HARADA DISEASE.
Retina (Philadelphia, Pa.)Endogenous endophthalmitis secondary to Lemierre's Syndrome originating from pharyngotonsillitis.
Journal of ophthalmic inflammation and infectionMultimodal chorioretinal imaging in Wyburn-Mason syndrome: A case report.
HeliyonManifestations of COVID-19 in the posterior eye segment - Up-to-date.
Oman journal of ophthalmologyEarly and Late Treatment Influence on Chorioretinal Microvasculature in Vogt-Koyanagi-Harada Patients Using Optical Coherence Tomography Angiography.
Translational vision science & technologyChorioretinopathy presenting as bitemporal hemianopia.
Journal of the neurological sciencesImaging in spaceflight associated neuro-ocular syndrome (SANS): Current technology and future directions in modalities.
Life sciences in space researchSevere Spaceflight-Associated Neuro-Ocular Syndrome in an Astronaut With 2 Predisposing Factors.
JAMA ophthalmologyPUNCTATE INNER CHOROIDOPATHY AFTER PARS PLANA VITRECTOMY FOR HIGH MYOPIC FULL-THICKNESS MACULAR HOLE.
Retinal cases & brief reportsEXPLORING THE CHALLENGES OF DISTINGUISHING PUNCTATE INNER CHOROIDOPATHY FROM MULTIFOCAL CHOROIDITIS AND PANUVEITIS.
Retina (Philadelphia, Pa.)A novel small deletion in CWC27 gene associated with CWC27-related spliceosomeopathy.
Ophthalmic geneticsIntraretinal hemorrhages and detailed retinal phenotype of three patients with Alagille syndrome.
Ophthalmic geneticsRadius-Maumenee syndrome-associated glaucoma, a therapeutic challenge: A case report.
European journal of ophthalmologyParaneoplastic 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 reportsEmploying 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 diseasesContinuous epileptiform discharges are associated with worse neurodevelopmental findings in a congenital Zika syndrome prospective cohort.
SeizureFoveal 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 reportsTwo case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.
Molecular biology reportsWagner syndrome: Novel VCAN variant and prophylactic management with encircling band and retinopexy.
American journal of ophthalmology case reportsVitiligo as a First Sign of Vogt-Koyanagi-Harada Disease.
Acta dermatovenerologica Croatica : ADCOcular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis.
American journal of medical genetics. Part AA case of secondary multiple evanescent white dot syndrome in a patient with preexisting wet age-related macular degeneration.
American journal of ophthalmology case reportsMacular atrophy and focal choroidal excavation in a patient with JAG1- related alagille syndrome.
Ophthalmic geneticsValue and Significance of Hypofluorescent Lesions Seen on Late-Phase Indocyanine Green Angiography.
Ophthalmology scienceBOUCHER-NEUHAUSER SYNDROME: CHORIORETINAL CHANGES IN A SINGLE CASE OVER TIME.
Retinal cases & brief reportsManifestations of systemic disease in the retina and fundus of cats and dogs.
Frontiers in veterinary sciencePrenatal and Postnatal Ocular Abnormalities Following Congenital Zika Virus Infections: A Systematic Review.
Ocular immunology and inflammationADAMTS18-related anterior segment dysgenesis mistaken as Axenfeld-Rieger syndrome.
Taiwan journal of ophthalmologyLong-term follow-up of torpedo maculopathy: a case series and mini-review.
BMC ophthalmologyIntraocular sarcoid-like reaction in patients with chronic lymphocytic leukemia.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieOcular manifestations in Koolen-de Vries syndrome: an international study.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieSubluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child.
Oman journal of ophthalmologyPeripapillary fluid: Obvious and not so obvious!
Survey of ophthalmologyTeaching Neuroimage - Aicardi Syndrome: A Triad of Epileptic Spasms, Agenesis of Corpus Callosum, and Chorio-Retinal Lacunae.
Neurology IndiaPNPLA6 disorders: what's in a name?
Ophthalmic geneticsFloating-Harbor syndrome with chorioretinal colobomas.
Ophthalmic geneticsToxoplasmosis mimicking CMV chorioretinitis in newly diagnosed PLWH: a case report.
Le infezioni in medicinaDiagnosis and Characteristics of Presentation of Tubulointerstitial Nephritis and Uveitis Syndrome During the COVID-2019 Pandemic.
Ocular immunology and inflammationEarly-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant.
Ophthalmology. RetinaAicardi 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 AssociationPUNCTATE INNER PACHYCHOROIDOPATHY: Demographic and Clinical Features of Inner Choroidal Inflammation in Eyes with Pachychoroid Disease.
Retina (Philadelphia, Pa.)Aicardi Syndrome Is a Genetically Heterogeneous Disorder.
GenesOcular manifestations and clinical outcomes in Tubulointerstitial Nephritis and Uveitis Syndrome (TINU).
Eye (London, England)SOLITARY PUNCTATE CHORIORETINITIS: A Unique Subtype of Punctate Inner Choroidopathy.
Retina (Philadelphia, Pa.)MULTIMODAL RETINAL IMAGING FINDINGS IN HARDIKAR SYNDROME.
Retinal cases & brief reportsChallenges in posterior uveitis-tips and tricks for the retina specialist.
Journal of ophthalmic inflammation and infectionLatest advances in white spot syndromes: New findings and interpretations.
Progress in retinal and eye researchMicrocephaly and Chorioretinopathy Relevance as a Differential Diagnosis.
Diagnostics (Basel, Switzerland)Multimodal imaging of an acute presentation of ocular histoplasmosis syndrome in an immunocompetent patient.
American journal of ophthalmology case reportsBlue-Light Fundus Autofluorescence (BAF), an Essential Modality for the Evaluation of Inflammatory Diseases of the Photoreceptors: An Imaging Narrative.
Diagnostics (Basel, Switzerland)Alterations in the optic nerve and retina in patients with COVID-19. A theoretical review.
Archivos de la Sociedad Espanola de OftalmologiaLens Coloboma: A Rare Association of Congenital Rubella Syndrome.
Cureus[Acute posterior multifocal placoid pigment epitheliopathy, serpiginous choroiditis and related diseases].
Journal francais d'ophtalmologieEnlarging aneurysm with paracentral acute middle maculopathy in idiopathic retinal vasculitis, aneurysms and neuroretinitis (IRVAN) - a case report.
European journal of ophthalmologyRisk of adverse pregnancy and infant outcomes associated with prenatal Zika virus infection: a post-epidemic cohort in Central-West Brazil.
Scientific reportsClinical Outcomes of Observed and Treated Acute Posterior Multifocal Placoid Pigment Epitheliopathy and Relentless Placoid Chorioretinitis.
Ocular immunology and inflammationInsights Regarding Optometric Findings of CHARGE Syndrome in a Pediatric Low Vision Clinic.
Optometry and vision science : official publication of the American Academy of OptometryA Chinese family with cat eye syndrome and abnormality of eye movement: First case report.
Frontiers in pediatricsClinical Spectrum, Radiological Findings, and Outcomes of Severe Toxoplasmosis in Immunocompetent Hosts: A Systematic Review.
Pathogens (Basel, Switzerland)Spontaneous ciliary body detachment in a Marfan patient: A case of personalized management.
American journal of ophthalmology case reportsBoucher Neuhäuser Syndrome in Twins: A Rare and Unusual Cause of Cerebellar Ataxia.
Movement disorders clinical practiceToxoplasmic maculopathy with bacillary layer detachment in a pediatric patient.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusMicrocephaly and chorioretinopathy associated with TUBGCP4: a case report and a review of the literature.
Ophthalmic geneticsClinical and Osteopetrosis-Like Radiological Findings in Patients with Leukocyte Adhesion Deficiency Type III.
Journal of clinical immunologyTopographic 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[Multimodal imaging in toxoplasmic external punctate retinitis: about a case].
The Pan African medical journalBeaded Pearls Appearance in Syphilitic Chorioretinitis.
Ocular immunology and inflammationChorioretinal Findings in a Patient with New-Onset Systemic Lupus Erythematosus and Antiphospholipid Syndrome after Stillbirth Associated with Pre eclampsia.
Ocular immunology and inflammationBilateral neuroretinitis and membranous lupus nephritis: 2 infrequent manifestations in juvenile lupus.
Archivos de la Sociedad Espanola de OftalmologiaTHREE-YEAR FOLLOW-UP OF PROGRESSIVE CHORIORETINAL ATROPHY IN ATYPICAL ALAGILLE SYNDROME: A CASE REPORT.
Retinal cases & brief reportsA case of Aicardi syndrome associated with duplication event of Xp22 including SHOX.
Ophthalmic geneticsChoroidal Involvement in a Case of Viral Retinitis.
Ocular immunology and inflammationA Rare Presentation of Polygenic Inheritance Manifesting As Congenital Rubella Syndrome: A Case Report.
CureusSpaceflight associated neuro-ocular syndrome: proposed pathogenesis, terrestrial analogues, and emerging countermeasures.
The British journal of ophthalmologyOcular features in Aicardi syndrome: A case report.
MedicineIncidence and Progression of Chorioretinal Folds During Long-Duration Spaceflight.
JAMA ophthalmologyA de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome.
American journal of medical genetics. Part AKinesin-5 Eg5 is essential for spindle assembly, chromosome stability and organogenesis in development.
Cell death discoveryCOMPARISON OF PRIMARY AND SECONDARY FORMS OF MULTIPLE EVANESCENT WHITE DOT SYNDROME.
Retina (Philadelphia, Pa.)Retinal telangiectasia-like lesions in a 15-year-old female with Hereditary hemorrhagic telangiectasia - a case report.
BMC ophthalmologyCase report: Visual snow as the presenting symptom in multiple evanescent white dot syndrome. Two case reports and literature review.
Frontiers in neurologyPUNCTATE INNER CHOROIDOPATHY-LIKE REACTIONS IN UNRELATED RETINAL DISEASES.
Retina (Philadelphia, Pa.)Joubert Syndrome with a Rare Ocular Phenotype: Coloboma with Retrobulbar Cysts - A Case Report.
Case reports in ophthalmologyExtended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia.
Children (Basel, Switzerland)Atypical Focal Choroidal Excavation with Macular Hole in a Patient with Alagille Syndrome.
Case reports in ophthalmological medicineCongenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome.
Italian journal of pediatricsEarly Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome.
The Journal of pediatricsAcute macular neuroretinopathy in a patient with birdshot chorioretinopathy after intravitreal triamcinolone suspension injection.
European journal of ophthalmologyFundus Changes in the Offspring of Mothers With Confirmed Zika Virus Infection During Pregnancy in French Guiana, Guadeloupe, and Martinique, French West Indies.
JAMA ophthalmologyIdiopathic 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 AugenheilkundeCHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia.
Italian journal of pediatricsPrevalence 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 researchUse 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 OphthalmologieA de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation.
Metabolic brain diseaseMultisystem Inflammatory Syndrome in Adults and Severe Toxoplasmosis: Similar Clinical Presentations, Potentially Severe Outcomes.
Open forum infectious diseasesDiagnostic approach to Aicardi syndrome: A case report.
Radiology case reportsA Rare Case of Didanosine-Induced Mid-Peripheral Chorioretinal Atrophy Identified Incidentally 11 Years after the Drug Cessation.
Medicina (Kaunas, Lithuania)Pathogenesis and Manifestations of Zika Virus-Associated Ocular Diseases.
Tropical medicine and infectious diseaseNovel chorioretinal findings in two siblings with mucopolysaccharidosis type VI.
Ophthalmic geneticsOcular findings of congenital Zika virus infection with microcephaly.
International ophthalmologyUveomeningeal syndrome presenting with bilateral optic disc edema and multiple evanescent white dots syndrome (MEWDS).
American journal of ophthalmology case reportsMechanisms, Pathophysiology and Current Immunomodulatory/Immunosuppressive Therapy of Non-Infectious and/or Immune-Mediated Choroiditis.
Pharmaceuticals (Basel, Switzerland)PNPLA6/NTE, an Evolutionary Conserved Phospholipase Linked to a Group of Complex Human Diseases.
MetabolitesWide-field Fundus Imaging and Fluorescein Angiography Findings in Various Pseudoretinoblastoma Conditions.
Journal of pediatric ophthalmology and strabismusBilateral Ampiginous Choroiditis following Confirmed SARS-CoV-2 Infection.
Ocular immunology and inflammationA rare case of bilateral vitreoretinopathy of Aicardi syndrome.
American journal of ophthalmology case reportsUltra-Widefield Fundus Fluorescein Angiography Findings in Patients with Fuchs' Uveitis Syndrome.
Advanced biomedical researchMultimodal retinal imaging of m.3243A>G associated retinopathy.
American journal of ophthalmology case reports"Acute Bilateral Neuroretinitis and Panuveitis in A Patient with Coronavirus Disease 2019: A Case Report"- Few Comments.
Ocular immunology and inflammationMultiple 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 reportsIdentification of Novel Compound Heterozygous Variants of the PNPLA6 Gene in Boucher-Neuhäuser Syndrome.
Frontiers in geneticsNovel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome.
Molecular genetics & genomic medicinePrevalence of complications in eyes with nanophthalmos or microphthalmos: protocol for a systematic review and meta-analysis.
Systematic reviewsEnhanced S-Cone Syndrome Masquerading as TORCH in an Infant and a Toddler.
Ocular immunology and inflammationBilateral Panuveitis Mimicking Vogt-Koyanagi-Harada Disease following the First Dose of ChAdOx1 nCoV-19 Vaccine.
Ocular immunology and inflammationA case report of isolated primary herpes-simplex virus neuroretinitis in an immunocompetent adult.
BMC ophthalmologyMultifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature.
Frontiers in neurologyNovel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy.
Ophthalmic geneticsAcute retinal necrosis: time to consider double dose of Foscarnet in the first 72 hours.
Romanian journal of ophthalmologyClinical Manifestations and Implications of Nonneoplastic Uveitis Masquerade Syndrome.
American journal of ophthalmologyNovel BMP4 Truncations Resulted in Opposite Ocular Anomalies: Pathologic Myopia Rather Than Microphthalmia.
Frontiers in cell and developmental biologyMacular atrophy in JAG1-related Alagille syndrome: a case series.
Ophthalmic geneticsRare Case of Bilateral Diffuse Uveal Melanocytic Proliferation with Dermal and Mucosal Hyperpigmentations.
Diagnostics (Basel, Switzerland)Tilted disc syndrome (TDS): New hypotheses for posterior segment complications and their implications in other retinal diseases.
Progress in retinal and eye researchClinicopathology 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 infectionIncreased Choroidal Thickness in Morquio Syndrome.
Case reports in ophthalmologyNeonatal Onset Glaucoma in a Case with Gorlin-Goltz Syndrome: An Unusual Association.
Journal of current glaucoma practiceAssociações
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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.
- Pathogenic Variants in MPDZ are Associated with a Syndromic Neurodevelopmental Disorder: A Case Report and Review of the Literature.
- An unusual case of Kabuki Syndrome with retinal ischaemia and neovascular glaucoma.
- NON-INFECTIOUS POSTERIOR UVEITIDES - Atypicals, Variants, and Masquerades: the jungle of differential diagnosis.
- New insights into Oliver-McFarlane syndrome: adrenocortical hypofunction and variable expressivity in a Chinese sibling pair.
- Relentless placoid chorioretinitis associated with Crohn's disease and secondary MEWDS: a case report.
- Spaceflight Associated Neuro-ocular Syndrome (SANS) and its countermeasures.
- A novel large multi-gene deletion in syndromic choroideremia.
- Imaging in spaceflight associated neuro-ocular syndrome (SANS): Current technology and future directions in modalities.
- Severe Spaceflight-Associated Neuro-Ocular Syndrome in an Astronaut With 2 Predisposing Factors.
- Radius-Maumenee syndrome-associated glaucoma, a therapeutic challenge: A case report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:369970(Orphanet)
- OMIM OMIM:615458(OMIM)
- MONDO:0014195(MONDO)
- GARD:17593(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- 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