O coloboma da coróide e da retina é um defeito genético raro do desenvolvimento durante a embriogênese, caracterizado pela ausência parcial do epitélio pigmentar da retina e da coróide, mais frequentemente localizado no quadrante inferonasal. Os pacientes geralmente apresentam visão reduzida e têm risco aumentado de descolamento de retina. Outras anomalias oculares (por exemplo, coloboma da íris, microcórnea, nistagmo, estrabismo, microftalmia) estão geralmente associadas, mas também podem ser isoladas.
Introdução
O que você precisa saber de cara
O coloboma da coróide e da retina é um defeito genético raro do desenvolvimento durante a embriogênese, caracterizado pela ausência parcial do epitélio pigmentar da retina e da coróide, mais frequentemente localizado no quadrante inferonasal. Os pacientes geralmente apresentam visão reduzida e têm risco aumentado de descolamento de retina. Outras anomalias oculares (por exemplo, coloboma da íris, microcórnea, nistagmo, estrabismo, microftalmia) estão geralmente associadas, mas também podem ser isoladas.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
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
5 genes identificados com associação a esta condição.
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. May play a role in the repair of noise-induced stereocilia gaps thereby maintains hearing sensitivity following loud noise damage (By similarity)
Cytoplasm, cytoskeleton
Deafness, autosomal dominant, 20
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Receptor for Wnt proteins (PubMed:10097073, PubMed:20530549, PubMed:26908622, PubMed:9054360). Functions in the canonical Wnt/beta-catenin signaling pathway. In vitro activates WNT2, WNT10B, WNT5A, but not WNT2B or WNT4 signaling (By similarity). In neurons, activation by WNT7A promotes formation of synapses (PubMed:20530549). May be involved in transduction and intercellular transmission of polarity information during tissue morphogenesis and/or in differentiated tissues (Probable). Plays a rol
Cell membraneGolgi apparatus membraneSynapsePerikaryonCell projection, dendriteCell projection, axon
Microphthalmia/Coloboma 11
A form of colobomatous microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like coloboma, opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). MCOPCB11 is an autosomal dominant form with incomplete penetrance.
Probable transcription factor that plays a role in eye development before, during, and after optic fissure closure
Nucleus
Coloboma, ocular, autosomal recessive
An ocular anomaly resulting from abnormal morphogenesis of the optic cup and stalk, and incomplete fusion of the fetal intra-ocular fissure during gestation. The clinical presentation is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even anophthalmia.
ATP-dependent transporter that catalyzes the transport of a broad-spectrum of porphyrins from the cytoplasm to the extracellular space through the plasma membrane or into the vesicle lumen (PubMed:17661442, PubMed:23792964, PubMed:27507172, PubMed:33007128). May also function as an ATP-dependent importer of porphyrins from the cytoplasm into the mitochondria, in turn may participate in the de novo heme biosynthesis regulation and in the coordination of heme and iron homeostasis during phenylhydr
Cell membraneMitochondrion outer membraneEndoplasmic reticulum membraneGolgi apparatus membraneEndosome membraneLysosome membraneLate endosome membraneEarly endosome membraneSecreted, extracellular exosomeMitochondrionEndosome, multivesicular body membraneMelanosome membrane
Microphthalmia/Coloboma 7
A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure).
Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Acts as a transcriptional repressor of NFATC1-mediated gene expression (By s
Nucleus
Aniridia 1
A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time.
Variantes genéticas (ClinVar)
662 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
43 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 — Coloboma da coroide e retina
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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.
Publicações mais relevantes
Peripapillary Retinoschisis: The Expanded Spectrum and New Insights From Multimodal Imaging.
To characterize and classify different forms of peripapillary retinoschisis (PPRS), and to clarify the nomenclature of this condition. A retrospective, multicenter, multinational case series of PPRS was performed from August 2021 to September 2024. Cases were included if they demonstrated retinoschisis contiguous with and thought to be originating from the optic disc. Demographic and clinical data collected included age, gender, visual acuity, intraocular pressure, axial length, refraction and referring symptoms. Mandatory investigations included optical coherence tomography of the optic disc and macula with radial scans, color fundus photography, and fundus autofluorescence. Select cases underwent fundus fluorescein and/or indocyanine green angiography. Retinoschisis was characterized by the meridian in relation to the optic disc, layer(s) of the retina affected and associated conditions. A literature review was performed to identify all causes of PPRS. A total of 47 eyes from 41 patients with PPRS were identified, comprising of 22 (54%) females and a mean age of 56 years (range 14-92 years). These were classified into 9 aetiologies: Congenital Disc Abnormalities (CDA, n = 16 eyes), peripapillary chorioretinal coloboma (n = 1), peripapillary atrophy (n = 3), glaucoma (n = 7), Peripapillary Pachychoroid Syndrome (PPS, n = 4), peripapillary choroidal neovascularization (PP-CNV, n = 3), high/ pathological myopia (n = 5), vitreopapillary traction (VPT, n = 4) and idiopathic (n = 4). The 9 aetiologies of peripapillary retinoschisis can be classified into 5 groups: non-glaucomatous optic disc abnormalities (CDA, PP-coloboma, PP-atrophy), glaucomatous optic disc abnormalities, peripapillary choroidal diseases (PPS and PP-CNV), vitreous optic disc interface abnormalities and idiopathic. A new entity, "Focal Optic Disc Dome" (FODD) was identified. Understanding the full spectrum of PPRS can assist in correct diagnosis and management.
Choroidal Cavitations within Optic Nerve Colobomas in CHARGE Syndrome.
Hybrid cavitary disc anomaly - A case series and proposal of a novel classification system.
Cavitary disc anomalies, including optic disc pit (ODP), optic nerve coloboma (ODC), and morning glory disc anomaly (MGDA), are congenital conditions with distinct embryological origins and systemic associations. Hybrid features combining these anomalies are rare, complicating diagnosis and management. To describe the clinical spectrum, multimodal imaging characteristics, and management strategies of hybrid cavitary disc anomalies, and to propose a novel classification system based on anatomical and physiological overlap. This retrospective case series included 22 eyes from 17 patients seen at a tertiary care center over 19 months (June 2023-December 2024). All underwent best-corrected visual acuity (BCVA) and fundus examination, multimodal imaging (color fundus photography and [optical coherence tomography] OCT), and neuroimaging when indicated. Findings were confirmed by a senior consultant with over 20 years of experience. Management tailored to visual prognosis and macular status. The median BCVA was Log MAR 0.30 ± 1.13. Various anomalies include ODP with ODC and retinal choroidal coloboma in 10 eyes (45.5%), ODP with MGDA in 3 eyes (13.6%), ODC with RCC and bridging, coloboma in 3 eyes (13.6%), and ODC with MGDA in 2 eyes (9.1%). ODP with ODC, dual ODP with ODC and RCC, and dual ODP with ODC or RCC in 1 eye were each present in 1 eye (4.5). One patient had bilateral hybrid anomalies with maculopathy. Surgical intervention was required in 4 eyes (18.2%). Hybrid cavitary disc anomalies, including MGDA and ODP, present unique diagnostic and management challenges. This study provides insights into these rare conditions, emphasizing the need for further monitoring and research.
Retinal detachments associated with choroidal colobomas.
To summarize the characteristics of the retinal detachments (RDs) that are associated with choroidal colobomas that occur in pediatric and adult patients. A choroidal coloboma is a rare disorder that results from an incomplete closure of the embryonic optic fissure, and their size can range from small colobomas with isolated chorioretinal involvement to large colobomas affecting the iris, choroid, retina, and optic nerve. A RD is occasionally associated with choroidal colobomas, and histological studies of the area of the choroidal coloboma show an absence of normal choroidal tissue, retinal pigment epithelium (RPE), and retina. Near the margin of the coloboma, the inner retinal layer has a central continuation of the marginal intercalary membrane (ICM) within the coloboma. The outer layer folds back, becomes disorganized, and fuses with the RPE. The inner retina gradually thins and merges with the marginal ICM with a high incidence of tears of the ICM developing along the edge of the coloboma or toward the center. Because of the high association of the causative retinal breaks being located within the colobomatous area, vitrectomy, endolaser photocoagulation around the margin of coloboma, and long-term tamponade with silicone oil or gas are recommended treatments. In addition, the presence of the macula within the area of the laser photocoagulation should be considered. However, the recurrence rate is high and multiple surgeries are required to reattach the detached retina.
North Carolina Macular Dystrophy.
North Carolina Macular Dystrophy (NCMD) is an autosomal dominant, congenital, completely penetrant non-progressive macular malformation. The NCMD phenotype is highly variable even within the same family (Fig. 21.1). Grade 1 individuals have few drusen centrally while grade 2 can appear with confluent drusen to central vitelliform lesions. Grade 3 appears as dramatic choroidal excavations and coloboma like lesions (Small 1989; Small et al. 1991, 2022a). There can be some vision decline secondary to the development of choroidal neovascular membranes (CNVMs) (Bakall et al. 2018). Patients who develop CNVMs are the subjects who experience progressive moderate to severe vision impairment, typically confined to one eye. In grade 3 lesions, the CNVMs and resulting fibrosis typically occur along the temporal edge of the "coloboma" and do not affect the visual acuity. Peripheral drusen are variably reported.
Publicações recentes
Hybrid cavitary disc anomaly - A case series and proposal of a novel classification system.
Peripapillary Retinoschisis: The Expanded Spectrum and New Insights From Multimodal Imaging.
Bilateral Iris and Chorioretinal Colobomas in a Child With Suspected Lamb-Shaffer Syndrome.
Bardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature.
RWC Update: Unstapling the Retina From a Firecracker Injury; Macula-On Retinal Detachment: When To Operate?; Choroidal Coloboma.
📚 EuropePMCmostrando 116
Choroidal Cavitations within Optic Nerve Colobomas in CHARGE Syndrome.
Ophthalmology. RetinaHybrid cavitary disc anomaly - A case series and proposal of a novel classification system.
Indian journal of ophthalmologyPeripapillary Retinoschisis: The Expanded Spectrum and New Insights From Multimodal Imaging.
American journal of ophthalmologyRetinal detachments associated with choroidal colobomas.
Taiwan journal of ophthalmologyNorth Carolina Macular Dystrophy.
Advances in experimental medicine and biologyBilateral Iris and Chorioretinal Colobomas in a Child With Suspected Lamb-Shaffer Syndrome.
Ophthalmic surgery, lasers & imaging retinaThe Evaluation of Ocular Posterior Segment Findings in 5527 Term Infants Using Smartphone-Based Fundus Imaging.
Journal of ophthalmologyA case report of macular coloboma as an ocular clinical feature in Sturge Weber Syndrome.
International journal of surgery case reportsBilateral Colobomas Affecting the Iris, Optic Nerve, Choroid, and Retina.
OphthalmologyBardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature.
Ophthalmic geneticsRWC Update: Unstapling the Retina From a Firecracker Injury; Macula-On Retinal Detachment: When To Operate?; Choroidal Coloboma.
Ophthalmic surgery, lasers & imaging retinaAutomated detection of nine infantile fundus diseases and conditions in retinal images using a deep learning system.
The EPMA journalRetinopathy With Variant of Unknown Significance and Atypical Chorioretinal Coloboma in the Setting of Prematurity.
Ophthalmic surgery, lasers & imaging retinaOptic Disc Pit Associated With Choroidal Coloboma: Case Report And Short Review.
Journal of Ayub Medical College, Abbottabad : JAMCChoroid cavitation associated with macular coloboma. Multimodal study. Image en face.
Archivos de la Sociedad Espanola de OftalmologiaOutcomes of three-piece rigid scleral fixated intraocular lens implantation in subjects with deficient posterior capsule following complications in manual small incision cataract surgery.
HeliyonCombined choroidal vitiligo and retinochoroidal coloboma.
BMJ case reportsOcular blood vessel arrangement in choroidal coloboma.
Eye (London, England)Unilateral retinitis pigmentosa and macular coloboma with fellow eye pigmented paravenous chorioretinal atrophy.
Clinical & experimental optometryRetinal manifestations in autosomal recessive MPDZ maculopathy: report of two cases and literature review.
Ophthalmic geneticsZfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure.
Investigative ophthalmology & visual scienceFundus Changes in the Offspring of Mothers With Confirmed Zika Virus Infection During Pregnancy in French Guiana, Guadeloupe, and Martinique, French West Indies.
JAMA ophthalmologyCONGENITAL POSTERIOR POLAR CHORIORETINAL HYPOPLASIA: Expansion of the Clinical Spectrum, Mutation, and Its Association With PRDM13.
Retina (Philadelphia, Pa.)Coloboma of the retina, choroid and iris co-existing with cardiac & Skeletal anomalies in a male Nigerian: A case of noonan syndrome.
Nigerian journal of clinical practiceFindings of ocular examinations in healthy full-term newborns.
Arquivos brasileiros de oftalmologiaChoroidal coloboma with internal limiting membrane folds: A rare association.
Indian journal of ophthalmologyColoboma associated retinal detachment: Anatomical and functional results in the era of microincision vitrectomy surgery with an evaluation of risk factors for a recurrence.
Indian journal of ophthalmologyClinical and Demographic Profile of Uveal Coloboma: A Hospital-Based Study of 14,371 Eyes of 9557 Indian Patients.
American journal of ophthalmologyAtypical and extensive combined irido-retinochoroidal coloboma with microcornea.
BMJ case reportsThe Vascular Pattern In Vicinity Of Chorioretinal Coloboma: An Optical Coherence Tomography Angiography Study.
Ophthalmic geneticsNovel insights into chorioretinal and juxtapapillary colobomas by optical coherence tomography.
Veterinary ophthalmologyReview of evidence for environmental causes of uveal coloboma.
Survey of ophthalmologyOcular Coloboma With Choroidal Neovascular Membrane: A Case Report.
CureusRisk of Retinal Detachment in Children with Ocular Coloboma.
OphthalmologyOptic disc pit with multiquadrant peripapillary retinoschisis and choroidal coloboma.
BMJ case reportsAtypical superonasal iris, lens and retino-choroidal coloboma.
Clinical & experimental optometryNorth Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants.
Investigative ophthalmology & visual scienceOcular coloboma-a comprehensive review for the clinician.
Eye (London, England)Confirming and expanding the phenotypes of FZD5 variants: Coloboma, inferior chorioretinal hypoplasia, and high myopia.
Molecular visionIntravitreal ranibizumab for the management of serous maculopathy secondary to optic disc coloboma-associated choroidal neovascularisation.
BMJ case reports[Clinical phenotype and analysis of CHD7 gene variants in three children patients with CHARGE syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsStructure of the Retinal Margin and Presumed Mechanism of Retinal Detachment in Choroidal Coloboma.
Ophthalmology. RetinaOcular coloboma: Genetic variants reveal a dynamic model of eye development.
American journal of medical genetics. Part C, Seminars in medical geneticsClinical spectrum of non-syndromic microphthalmos, anophthalmos and coloboma in the paediatric population: a multicentric study from North India.
The British journal of ophthalmologyCompound heterozygous splicing CDON variants result in isolated ocular coloboma.
Clinical geneticsSecondary intrachoroidal cavitation in a case of iridofundal coloboma.
Medical hypothesesBuild Your Own Eye: A Method for Teaching Ocular Anatomy and Pathophysiology.
Journal of education & teaching in emergency medicineA rare case of temporal atypical retinochoroidal coloboma associated with posterior embryotoxon.
Indian journal of ophthalmologyMitf-family transcription factor function is required within cranial neural crest cells to promote choroid fissure closure.
Development (Cambridge, England)[Unilateral chorio retinal coloboma].
Journal francais d'ophtalmologieRetinal astigmatism induced by a chorioretinal coloboma?
Clinical & experimental optometryChorioretinal colobomas in neonatal intensive care using ocular coherence tomography.
Clinical & experimental optometryA Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye.
American journal of medical genetics. Part APars-plana vitrectomy with phacofragmentation for hyperdense cataracts in eyes with severe microcornea and chorio-retinal coloboma: A novel approach.
Indian journal of ophthalmologyClinical Spectrum and Long-Term Anatomical and Functional Outcomes of Pars Plana Vitrectomy in Retinal Detachments Associated With Choroidal Coloboma.
Journal of vitreoretinal diseasesMulticolour imaging in retinochoroidal coloboma.
Clinical & experimental optometrySwept-Source OCT Analysis of the Margin of Choroidal Coloboma: New Insights.
Ophthalmology. RetinaGoltz syndrome: Primary diagnosis by an ophthalmologist.
Indian journal of ophthalmologyRare association of juvenile retinoschisis with retinochoroidal coloboma.
BMJ case reportsHyperacute spontaneous closure of a traumatic macular hole in a colobomatous eye.
American journal of ophthalmology case reportsA Study on Pattern of Retinal Detachment in Patients with Choroidal Coloboma and Its Outcome after Surgery at a Tertiary Eye Hospital in Nepal.
Journal of ophthalmologyAtypical Choroidal Coloboma.
Ophthalmology. RetinaZebrafish mab21l2 mutants possess severe defects in optic cup morphogenesis, lens and cornea development.
Developmental dynamics : an official publication of the American Association of AnatomistsA rare case of bilateral choroidal coloboma within deep posterior staphyloma associated with macular hole retinal detachment.
Indian journal of ophthalmologyRetinal capillary hemangioblastoma associated with retinochoroidal coloboma in Von Hippel-Lindau disease.
Indian journal of ophthalmologyVisualization of the Superior Ocular Sulcus during Danio rerio Embryogenesis.
Journal of visualized experiments : JoVE[Congenital abnormalities of the optic disc].
Journal francais d'ophtalmologieFamilial exudative vitreoretinopathy in a patient with choroidal coloboma.
BMJ case reports[Bilateral chorioretinian colobome: about a case].
The Pan African medical journalMacular Colobomata: Comparison of Clinical and Optical Coherence Tomography Features With Serologic Results.
American journal of ophthalmologyBilateral congenital macular coloboma: Swept-source optical coherence tomography findings.
La Tunisie medicaleAtypical superior iris and retinochoroidal coloboma.
Indian journal of ophthalmologyAssociation of giant retinal tear with iridofundal coloboma in a case of paediatric retinal detachment.
BMJ case reports[Bilateral iris coloboma].
The Pan African medical journalFundus examination of 199 851 newborns by digital imaging in China: a multicentre cross-sectional study.
The British journal of ophthalmologySUCCESSFUL SURGICAL OUTCOME OF FULL-THICKNESS MACULAR HOLE WITH CHOROIDAL COLOBOMA.
Retinal cases & brief reportsIntercalary membrane as the inner wall overlying optic and chorio-retinal colobomas. Deep penetration Swept Source-OCT study.
Indian journal of ophthalmologyThe cellular bases of choroid fissure formation and closure.
Developmental biologyOptical Coherence Tomography Angiography of Pigmented Paravenous Retinochoroidal Atrophy.
Ophthalmic surgery, lasers & imaging retinaLow-vision aids improve the visual performance of children with bilateral chorioretinal coloboma.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusA case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion.
Ophthalmic geneticsCell Behaviors during Closure of the Choroid Fissure in the Developing Eye.
Frontiers in cellular neuroscienceAtypical Retinal Lamination Pattern Associated with Bilateral Chorioretinal Coloboma.
Ophthalmology. RetinaRetino-choroidal coloboma: Study through retinography, fluorescence angiography, ecography and optical coherence tomography.
Archivos de la Sociedad Espanola de OftalmologiaMulti-modality imaging findings of huge intrachoroidal cavitation and myopic peripapillary sinkhole.
BMC ophthalmologyOcular and uteroplacental pathology in a macaque pregnancy with congenital Zika virus infection.
PloS oneOUTCOMES OF VITRECTOMY WITH SILICONE OIL TAMPONADE FOR MANAGEMENT OF RETINAL DETACHMENT IN EYES WITH CHORIORETINAL COLOBOMA.
Retina (Philadelphia, Pa.)Endoscopic Vitrectomy for Microcornea, Posterior Megalolenticonus, Persistent Fetal Vasculature, Coloboma Syndrome.
OphthalmologyOphthalmic findings in Frank-ter Haar syndrome: report of a sibling pair.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusCongenital anomalies of the optic disc: insights from optical coherence tomography imaging.
Current opinion in ophthalmologyAborted choroidal coloboma: fundus imaging and optical coherence tomography.
BMJ case reportsZebrafish zic2 controls formation of periocular neural crest and choroid fissure morphogenesis.
Developmental biologyPediatric Choroidal Coloboma with Macular Hole at the Edge of the Coloboma.
OphthalmologySOLITARY RETINAL CAPILLARY HEMANGIOMA IN A PATIENT WITH BILATERAL CHORIORETINAL COLOBOMA.
Retinal cases & brief reportsChorioretinal Coloboma Complications: Retinal Detachment and Choroidal Neovascular Membrane.
Journal of ophthalmic & vision researchSURGICAL OUTCOMES AND COMPLICATIONS OF RHEGMATOGENOUS RETINAL DETACHMENT IN EYES WITH CHORIORETINAL COLOBOMA: The Results of the KKESH International Collaborative Retina Study Group.
Retina (Philadelphia, Pa.)Coexistence of optic pit and coloboma of iris, lens, and choroid: a case report.
Arquivos brasileiros de oftalmologiaCataract, strabismus and chorioretinal coloboma in paediatric HIV infection.
Journal of optometrySpontaneous rupture of chorioretinal coloboma in an 8-year-old child is treated by temporal fascia graft.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusComplex limbal choristoma in linear nevus sebaceous syndrome managed with scleral grafting.
Indian journal of ophthalmologyUtility of optical coherence tomography in a case of bilateral congenital macular coloboma.
Indian journal of ophthalmologyAtypical chorioretinal coloboma in a Golden Retriever: a retinographic, fluoroangiographic, and optical coherence tomography study.
Veterinary ophthalmologyAssociation of Pediatric Choroidal Neovascular Membranes at the Temporal Edge of Optic Nerve and Retinochoroidal Coloboma.
American journal of ophthalmologyHypotonic maculopathy secondary to scleral defect in atypical retinochoroidal coloboma.
European journal of ophthalmologyChorioretinal coloboma in a patient with pancreas divisum: clinical and imaging features.
European journal of ophthalmology[Optic disc pit-associated maculopathy and iris-retinochoroidal-coloboma - a rare combination].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen GesellschaftA case of iridofundal coloboma with persistent fetal vasculature and lens subluxation.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusA NEW TECHNIQUE WITH AUTOLOGOUS FIBRIN FOR THE TREATMENT OF PERSISTENT OPTIC PIT MACULOPATHY.
Retinal cases & brief reportsAntivascular Endothelial Growth Factor Monotherapy for Choroidal Neovascularization Associated With Retinochoroidal Coloboma: Case Series.
Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)Ocular Findings in Infants With Microcephaly Associated With Presumed Zika Virus Congenital Infection in Salvador, Brazil.
JAMA ophthalmologyYap and Taz regulate retinal pigment epithelial cell fate.
Development (Cambridge, England)[Bilateral chorio-retinal coloboma].
Journal francais d'ophtalmologieReticular Pseudodrusen in Sorsby Fundus Dystrophy.
OphthalmologyClinical and Echographic Features of Retinochoroidal and Optic Nerve Colobomas.
Investigative ophthalmology & visual scienceSpontaneous resealing of perforated scleral ectasia associated with atypical retinochoroidal coloboma.
Clinical & experimental ophthalmologySox4 regulates choroid fissure closure by limiting Hedgehog signaling during ocular morphogenesis.
Developmental biologyAssociações
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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.
- Peripapillary Retinoschisis: The Expanded Spectrum and New Insights From Multimodal Imaging.
- Choroidal Cavitations within Optic Nerve Colobomas in CHARGE Syndrome.
- Hybrid cavitary disc anomaly - A case series and proposal of a novel classification system.
- Retinal detachments associated with choroidal colobomas.
- North Carolina Macular Dystrophy.
- Bilateral Iris and Chorioretinal Colobomas in a Child With Suspected Lamb-Shaffer Syndrome.
- Bardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature.
- RWC Update: Unstapling the Retina From a Firecracker Injury; Macula-On Retinal Detachment: When To Operate?; Choroidal Coloboma.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:98942(Orphanet)
- MONDO:0020354(MONDO)
- GARD:16875(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q56014418(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
