A síndrome de degeneração da retina, nanoftalmia e glaucoma é caracterizada por uma degeneração pigmentar progressiva da retina (a parte do olho que capta a luz e forma as imagens), que leva a dificuldade para enxergar no escuro (conhecida como nictalopia) e a uma restrição do campo visual (perda da visão lateral ou periférica). Além disso, a síndrome inclui degeneração macular cística (na mácula, a área central da retina responsável pela visão de detalhes, formam-se pequenos cistos, que são bolsas de líquido) e glaucoma de ângulo fechado (uma condição grave em que a pressão dentro do olho aumenta rapidamente, podendo danificar o nervo óptico). Esta síndrome foi descrita em sete membros de uma mesma família. Os pacientes também apresentam hipermetropia (dificuldade para enxergar de perto) e nanoftalmia (olhos que são anormalmente pequenos). A forma de transmissão é autossômica recessiva, o que significa que a pessoa só desenvolve a doença se herdar uma cópia do gene alterado de cada um dos pais.
Introdução
O que você precisa saber de cara
A síndrome de degeneração da retina, nanoftalmia e glaucoma é caracterizada por uma degeneração pigmentar progressiva da retina (a parte do olho que capta a luz e forma as imagens), que leva a dificuldade para enxergar no escuro (conhecida como nictalopia) e a uma restrição do campo visual (perda da visão lateral ou periférica). Além disso, a síndrome inclui degeneração macular cística (na mácula, a área central da retina responsável pela visão de detalhes, formam-se pequenos cistos, que são bolsas de líquido) e glaucoma de ângulo fechado (uma condição grave em que a pressão dentro do olho aumenta rapidamente, podendo danificar o nervo óptico). Esta síndrome foi descrita em sete membros de uma mesma família. Os pacientes também apresentam hipermetropia (dificuldade para enxergar de perto) e nanoftalmia (olhos que são anormalmente pequenos). A forma de transmissão é autossômica recessiva, o que significa que a pessoa só desenvolve a doença se herdar uma cópia do gene alterado de cada um dos pais.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 16 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
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
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 degenerescência retiniana-nanoftalmia-glaucoma
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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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CureusBardet-Biedl syndrome presenting with early-onset infantile obesity.
BMJ case reportsParaneoplastic syndromes and the retina.
Current opinion in ophthalmologyRetinal Capillary Hemangioblastoma: A Comprehensive Review on Treatments.
Ocular oncology and pathologyExpanding the Phenotype of STAMBP-Related Microcephaly-Capillary Malformation Syndrome.
American journal of medical genetics. Part ARetinal Thickness Profiles in Parkinsonian Syndromes: Discerning Parkinson's Disease, Multiple System Atrophy, and Progressive Supranuclear Palsy via Optical Coherence Tomography.
BiomedicinesCorrelation Between Endocrine and Other Clinical Factors with Peripapillary Retinal Nerve Fiber Layer Thickness After Surgical Treatment of Pediatric Craniopharyngioma.
BiomedicinesShaken Adult Syndrome: Defining a New Traumatic Entity with an Evidence-Based Approach.
Diagnostics (Basel, Switzerland)Pigmentary Retinopathy in Alagille Syndrome: Fundus Findings in a Two-Year-Old Boy.
Diagnostics (Basel, Switzerland)Choroidal vascularization in polycystic ovary syndrome: an optical coherence tomography study.
International ophthalmologyApplication of umbilical cord mesenchymal stem cell lysate in dry eye syndrome and retinal injury.
International ophthalmologyCohen syndrome with novel VPS13B variants presenting as early-onset diabetes: a case report.
Acta diabetologicaDelayed Clinical Diagnosis of Alström Syndrome in a Resource-Limited Setting: A Case Report From Rural Pakistan.
CureusBilateral Central Serous Chorioretinopathy in a Patient With XYY Syndrome.
Ophthalmic surgery, lasers & imaging retinaSaved by My Specs: Incidental central retinal vein occlusion uncovering infective endocarditis - A case report.
IDCasesInherited Retinal Disease as a Predisposing Factor for Paclitaxel Maculopathy.
Journal of vitreoretinal diseasesSequential Bilateral Central Retinal Vein Occlusion With Differential Long-Term Outcomes Following Cardiac Surgery.
Cureus[Optical Coherent Tomography: A Tool for Non-Invasive Biopsy in Women's Health].
HarefuahLong-term retinal dysfunction following COVID-19 infection: a one-year prospective observational study.
BMC ophthalmologyFamilial Chylomicronemia Syndrome-Lipemia Retinalis.
Ophthalmology. RetinaElectroretinographic measures and their correlation with retinal vascular calibers in bitches with pyometra-induced systemic inflammatory response syndrome.
Research in veterinary scienceTraditional Chinese Medicine Syndrome Differentiation of Adult Patients With Type 2 Diabetes and Metabolic Syndrome: Protocol for a Cross-Sectional Study.
JMIR research protocolsCompensatory Interplay Between Clarin-1 and Clarin-2 Deafness-Associated Proteins Governs Phenotypic Variability in Hearing.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Neovascular glaucoma masked by cerebral hyperperfusion syndrome following carotid artery stent placement: illustrative case.
Journal of neurosurgery. Case lessonsHypertensive retinopathy in pre-eclampsia and its association with disease severity and neonatal outcomes: A retrospective cohort study.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsOcular toxicities of targeted therapies and immunotherapies in hematologic malignancies.
Frontiers in oncologyDynamic changes in ocular and retinal function across acute hypobaric hypoxia.
Life sciences in space researchMedical management of post-phacoemulsification uveal effusion in nanophthalmos: A case report.
American journal of ophthalmology case reportsCirculating angiogenic progenitor cell apoptosis in Post-COVID-19 syndrome.
International journal of cardiology. Heart & vasculatureRisk of Retinal Vascular Occlusive Disease According to Type and Low-Density Lipoprotein-Cholesterol Control after Acute Coronary Syndrome.
Yonsei medical journalNeuro-ophthalmic observation and 16-month follow-up of horner syndrome after thyroidectomy: A case report.
MedicineEfficacy of anti-VEGF therapy for Irvine-Gass syndrome: a systematic review and meta-analysis.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieSevere Permanent Visual Decline After Hypotony-Induced Retinal Pigment Epithelial Changes.
CureusRetinal and microvascular alterations in Alport syndrome: a multimodal imaging study.
BMC ophthalmologyRetinal Degeneration and Visual Outcomes in Patients With Bardet-Biedl Syndrome: Genotypic Influences From a Caribbean Cohort.
CureusWipe-Out Syndrome After PreserFlo MicroShunt Implantation in a Patient With Pseudoexfoliation Glaucoma.
CureusComparison of the Cionni ring and Yamane techniques for intraocular lens implantation in pediatric Marfan syndrome patients with lens subluxation.
BMC ophthalmologyAssociation between retinal AV ratio and coronary artery disease severity in acute coronary syndrome and chronic coronary syndrome Patients: A prospective study.
Indian heart journal[Epidemiological, clinical, angiographic and therapeutic features of sickle cell retinopathy in Burkina Faso].
Journal francais d'ophtalmologieTissue-specific expression and regulation of the mineralocorticoid receptor during development.
The Journal of endocrinologyVaricella zoster virus acute retinal necrosis miming papillitis: a case report.
Journal of medical case reportsBiallelic Rare COL18A1 Variants in Patients With Neurological Phenotypes Without Severe Ophthalmologic Abnormalities.
Pediatric neurologyEpidemiology of Macrovascular and Microvascular Complications Among Patients With Diabetes Mellitus in Primary Care in Bahrain.
CureusReclassification of a novel NR2E3 variant as likely pathogenic: a case report of autosomal recessive RP37 in siblings.
Ophthalmic geneticsEvaluation of Melanin Changes in Acute Vogt-Koyanagi-Harada Disease Using Polarization-Sensitive Optical Coherence Tomography.
Investigative ophthalmology & visual scienceWhole-Genome Landscape of Retinal Hemangioblastomas.
Translational vision science & technologyAssociações
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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.
- A Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization.
- Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype-Phenotype Correlation in a Resource-Limited Healthcare Setting.
- Therapeutic efficacy and safety of a multi-wavelength LED irradiation device in a rat model of meibomian gland dysfunction.
- CTNNB1-related disorders: clinical and radiological contributions from a French cohort.
- The Early Visual System in Schizophrenia.
- Orbital Apex Syndrome Secondary to Middle Cranial Fossa Meningocele: A Rare Pediatric Case.
- Paediatric Neoplastic Uveitis Masquerade Syndromes.
- Pentraxin-3 and Lipocalin-2 are decreased in patients with uveal effusion syndrome.
- Novel variant causing OTUD6B-related syndrome with ocular dysplasia and hypothyroidism: the first Chinese case.
- Early posterior cranial vault distraction in syndromic craniosynostosis: orbital and ocular changes.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1574(Orphanet)
- OMIM OMIM:267760(OMIM)
- MONDO:0009978(MONDO)
- GARD:395(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55782273(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