Esta é uma lista parcial das doenças e distúrbios oculares humanos.
Introdução
O que você precisa saber de cara
Coloboma do cristalino é uma anomalia congênita caracterizada por uma fenda ou ausência parcial do cristalino, frequentemente associada a mutações em genes como SALL2 e PAX6. Pode afetar a visão, causando desde baixa acuidade visual até estrabismo e nistagmo.
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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
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
4 genes identificados com associação a esta condição.
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.
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.
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).
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.
Variantes genéticas (ClinVar)
675 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
14 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 do cristalino
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
Ensaios em destaque
Pesquisa e ensaios clínicos
0 ensaios clínicos encontrados.
Publicações mais relevantes
Isolated Lenticular Coloboma in an Atypical Location With Early Cataract Formation: A Case Report.
A coloboma refers to an embryological defect of the eye due to incomplete closure of the embryological fissure in development. Lenticular colobomas are defects of the capsular bag due to an absence of zonules, resulting in a characteristic notching of the lens; however, they are not true colobomas as there is no loss in lens tissue. These defects are often congenital and are typically seen in a unilateral and inferonasal position. In this case report, we outline the presentation of a 38-year-old female patient who had been experiencing reduced vision and floaters in one eye following an injury. When seen in eye casualty, the patient was noted to be amblyopic with a superotemporal lens coloboma observed in the left eye (LE). The affected LE had a reduced visual acuity of 6/30 compared to 6/6 in the right eye with mild nuclear sclerosis in the affected lens. Following 12 months of conservative management, the lens remained stable with no phacodonesis. The history of recent trauma and early cataract formation make this case unique. The history of trauma and subsequent visual deterioration raise the possibility of an underlying zonular defect unmasked by injury, highlighting the diagnostic uncertainty that can arise in atypical presentations.
Cataract Extraction with Capsular Bag Scleral Fixation in a Patient with a Congenital Lens Coloboma.
GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.
Variants in gap junction protein alpha 8 (GJA8), the gene encoding connexin 50 (Cx50), are primarily associated with developmental cataract, although some are associated with severe structural eye anomalies, such as aphakia (absent lens), microphthalmia (small eyes), and sclerocornea. To further define the relationship of GJA8 variants to ocular developmental disorders, we screened four large international cohorts with structural eye anomalies, including anophthalmia, microphthalmia, and coloboma (AMC) or cataracts. We identified 15 new families carrying 14 different heterozygous GJA8 variants (12 missense variants and two 1q21 microdeletions). The missense variants comprised 10 previously reported alterations in cases with eye anomalies [p.(Gly22Ser), p.(Val44Met), p.(Asp67Gly), p.(Arg76Cys), p.(Pro88Leu), p.(Gly94Glu), p.(Gly94Arg), p.(His98Arg), p.(Pro189Ser), and p.(Arg198Trp)] and two not yet linked with disease [p.(Thr39Met) and p.(Tyr66Asp)]. Their associated phenotypes ranged from isolated cataracts to a combination of microphthalmia and cataract with/without sclerocornea. Our study confirms GJA8 variants as an important source of genetic diagnoses for families with structural eye anomalies in addition to cataract and highlights specific mutational hotspots. Furthermore, we confirm an important genotype-phenotype correlation between sclerocornea and the p.(Gly94Arg) variant, and detail intra- and inter-familial phenotypic variability, which is important for clinical assessment and genetic counselling.
Microspherophakia with an atypical temporal iris coloboma in a young female.
Microspherophakia is a rare congenital lens abnormality characterised by increased anterior-posterior thickness and reduced equatorial diameter, giving the lens a spherical shape. Iris coloboma, typically involving the inferonasal iris, results from incomplete fetal fissure closure. To our knowledge, this is the first reported case of microspherophakia with bilateral atypical (temporal) iris coloboma. An early adolescent patient underwent a syndromic evaluation for multiple congenital anomalies. Ophthalmological examination revealed bilateral temporal notches of the pupillary rim with intact collarettes, suggesting coloboma and strongly pigmented lens zonules with phacodonesis. Additional findings included inguinal hernia, submucosal cleft palate, mitral valve prolapse, microcephaly and high myopia. Management focused on glasses and periodic intraocular pressure monitoring due to preserved visual acuity. This case underscores the variable presentation of probable connective tissue disorders, with atypical ocular features like microspherophakia, temporal iris coloboma and lens subluxation.
A zebrafish model of crim1 loss of function has small and misshapen lenses with dysregulated clic4 and fgf1b expression.
Heterozygous deletions predicting haploinsufficiency for the Cysteine Rich Motor Neuron 1 (CRIM1) gene have been identified in two families with macrophthalmia, colobomatous, with microcornea (MACOM), an autosomal dominant trait. Crim1 encodes a type I transmembrane protein that is expressed at the cell membrane of lens epithelial and fiber cells at the stage of lens pit formation. Decreased Crim1 expression in the mouse reduced the number of lens epithelial cells and caused defective adhesion between lens epithelial cells and between the epithelial and fiber cells. We present three patients with heterozygous deletions and truncating variants predicted to result in haploinsufficiency for CRIM1 as further evidence for the role of this gene in eye defects, including retinal coloboma, optic pallor, and glaucoma. We used Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/Cas9 to make a stable Danio rerio model of crim1 deficiency, generating zebrafish that were homozygous for a 2 basepair deletion, c.339_340delCT p.Leu112Leufs*, in crim1. Homozygous, crim1 -/- larvae demonstrated smaller eyes and small and misshapen lenses compared to controls, but we did not observe colobomas. Bulk RNA-Seq using dissected eyes from crim1 -/- larvae and controls at 72 h post fertilization showed significant downregulation of crim1 and chloride intracellular channel 4 (clic4) and upregulation of fibroblast growth factor 1b (fgf1b) and complement component 1, q subcomponent (c1q), amongst other dysregulated genes. Our work strengthens the association between haploinsufficiency for CRIM1 and eye defects and characterizes a stable model of crim1 loss of function for future research.
Publicações recentes
Long term outcome of in situ scleral fixation of subluxated capsular bag - intraocular lens complex.
Microspherophakia with an atypical temporal iris coloboma in a young female.
Pathobiology of the crystalline lens in Stickler syndrome.
Unilateral pigmented posterior lenticonus with retinochoroidal coloboma: a case report.
Couching of cataractous lens in microphthalmic eyes with irido-fundal coloboma: revisiting the historical technique.
📚 EuropePMCmostrando 138
Cataract Extraction with Capsular Bag Scleral Fixation in a Patient with a Congenital Lens Coloboma.
Journal of cataract and refractive surgeryIsolated Lenticular Coloboma in an Atypical Location With Early Cataract Formation: A Case Report.
CureusLong term outcome of in situ scleral fixation of subluxated capsular bag - intraocular lens complex.
Indian journal of ophthalmologyApproach to Cataract Surgery in a Case with Microcornea and Coloboma.
Romanian journal of ophthalmologyThe outcome of uveal coloboma patients undergoing manual small incision cataract surgery and intraocular lens implantation.
Oman journal of ophthalmologyGrossing of Non-neoplastic Globes, Including Fetal Eyes.
Journal of visualized experiments : JoVESchwartz-Matsuo syndrome with lens coloboma.
Journal francais d'ophtalmologieA favorable prognosis case of posttraumatic endophthalmitis possibly from the protective effect of previously implanted implantable collamer lens (ICLs).
American journal of ophthalmology case reportsGJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.
European journal of human genetics : EJHGMicrospherophakia with an atypical temporal iris coloboma in a young female.
BMJ case reportsBilateral Iris and Chorioretinal Colobomas in a Child With Suspected Lamb-Shaffer Syndrome.
Ophthalmic surgery, lasers & imaging retinaA zebrafish model of crim1 loss of function has small and misshapen lenses with dysregulated clic4 and fgf1b expression.
Frontiers in cell and developmental biologyShroom3 facilitates optic fissure closure via tissue alignment and reestablishment of apical-basal polarity during epithelial fusion.
Developmental biologyRefractive Alterations in Marfan Syndrome: A Narrative Review.
Medicina (Kaunas, Lithuania)Lens coloboma with bilateral ectopia lentis in Marfan syndrome: a case report.
International journal of ophthalmologyCataract Surgery in Eyes with Microphthalmos and/or Uveal Coloboma.
Ophthalmic researchDeletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.
Nature communicationsA De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element.
Human mutationPathobiology of the crystalline lens in Stickler syndrome.
Progress in retinal and eye researchUnilateral pigmented posterior lenticonus with retinochoroidal coloboma: a case report.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus[Efficacy of drainage implants in combined cataract and glaucoma surgery].
Vestnik oftalmologiiThe Red Reflex Test and Leukocoria in Childhood.
Acta medica portuguesaFetal eye ultrasound: Normal anatomy, abnormal findings, and clinical impact.
Ultraschall in der Medizin (Stuttgart, Germany : 1980)FLACS (Femtosecond-Laser-Assisted Cataract Surgery) combined with pupiloplasty in iris-lens coloboma.
American journal of ophthalmology case reportsCouching of cataractous lens in microphthalmic eyes with irido-fundal coloboma: revisiting the historical technique.
International ophthalmologyPrenatal and Postnatal Ocular Abnormalities Following Congenital Zika Virus Infections: A Systematic Review.
Ocular immunology and inflammationCongenital anomalies of lens shape.
Taiwan journal of ophthalmologySubluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child.
Oman journal of ophthalmologyOutcomes of three-piece rigid scleral fixated intraocular lens implantation in subjects with deficient posterior capsule following complications in manual small incision cataract surgery.
HeliyonImplantable Collamer Lens Subluxation in a Patient with Lenticular Coloboma: A Case Report.
The American journal of case reportsSCLERAL SUTURED TORIC INTRAOCULAR LENS WITH PARS PLANA VITRECTOMY FOR THE CORRECTION OF CORNEAL ASTIGMATISM WITHOUT CAPSULAR SUPPORT.
Retinal cases & brief reportsA Cross-sectional Analysis of 556 Eyes Entering the Homburg Aniridia Centre.
Klinische Monatsblatter fur AugenheilkundeDiverse presentations of ectopia lentis and lens coloboma in Marfan's syndrome.
Oman journal of ophthalmologyUnilateral Lens Coloboma With Congenital Cataract: A Case Report From Central India.
CureusLens Coloboma: A Rare Association of Congenital Rubella Syndrome.
Cureus"To Fulfill two needs with one deed": Iris fixation of intraocular lens using four-throw pupilloplasty.
Indian journal of ophthalmologyBilateral Iridochorioretinal Coloboma Managed with Low Vision Rehabilitation: A Case Report.
JNMA; journal of the Nepal Medical AssociationEctopic Rod Photoreceptor Development in Mice with Genetic Deficiency of WNT2B.
CellsSpectrum of congenital and inherited ocular disorders seen in a genetic clinic: Experience of a developing ocular genetic service.
Indian journal of ophthalmologyCosmetic iris implants - double edge sword.
European journal of ophthalmologyConforming to the anatomy and not the standard: A technique of eccentric capsulorrhexis and intraocular lens haptic amputation for eyes with iris coloboma.
European journal of ophthalmologyFirst Case Report of Developmental Bilateral Cataract with a Novel Mutation in the ZEB2 Gene Observed in Mowat-Wilson Syndrome.
Medicina (Kaunas, Lithuania)Pseudo second anterior lens capsule during post-vitrectomy cataract surgery: A case report.
American journal of ophthalmology case reportsFundus Changes in the Offspring of Mothers With Confirmed Zika Virus Infection During Pregnancy in French Guiana, Guadeloupe, and Martinique, French West Indies.
JAMA ophthalmologyClinical spectrum of orbital and ocular abnormalities on fetal MRI.
Pediatric radiologyCell fate decisions, transcription factors and signaling during early retinal development.
Progress in retinal and eye researchLunar lenses - Acquired lens colobomas.
Journal of postgraduate medicinePersistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome.
Molecular syndromologyCataract surgery in colobomatous eyes with advanced cataract.
Indian journal of ophthalmologyGillespie syndrome: An atypical form and review of the literature.
Annals of medicine and surgery (2012)Novel Use of Double-Layer Amniotic Membrane Technique in Tube Erosion in a Pediatric Patient.
Beyoglu eye journalLens Biometry in Congenital Lens Deformities: A Swept-Source Anterior Segment OCT Analysis.
Frontiers in medicineNeonatal Onset Glaucoma in a Case with Gorlin-Goltz Syndrome: An Unusual Association.
Journal of current glaucoma practiceEye morphogenesis in the blind Mexican cavefish.
Biology openScleral Contact Lens as Initial Management in a Neonate With a Large Upper Eyelid Coloboma.
Ophthalmic plastic and reconstructive surgeryFirst case of coloboma, lens neovascularization, traumatic cataract, and retinal detachment in a young Asian female.
Clinical case reportsOutcomes of manual small incision cataract surgery and phacoemulsification in eyes with chorioretinal coloboma.
Journal of cataract and refractive surgeryAtypical superonasal iris, lens and retino-choroidal coloboma.
Clinical & experimental optometryOptical changes and apparent emmetropization in a patient with a peripheral unilateral lens coloboma.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusNovel heterozygous variants in PXDN cause different anterior segment dysgenesis phenotypes in monozygotic twins.
Ophthalmic geneticsBilateral Toric Phakic Intraocular Lens Implantation for Correction of High Myopic Astigmatism in a Patient with Marfan Syndrome with Lens Coloboma: A Case Report.
Case reports in ophthalmology[On the question of the lens coloboma].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen GesellschaftOcular coloboma-a comprehensive review for the clinician.
Eye (London, England)Neuroimaging in Children with Ophthalmological Complaints: A Review.
Journal of neuroimaging : official journal of the American Society of NeuroimagingOutcomes of the Perplexed Surgical Management of Retinal Detachment in Eyes with Coloboma.
Korean journal of ophthalmology : KJO[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 geneticsIris trauma in a highly myopic woman with one functional eye October consultation #1.
Journal of cataract and refractive surgeryCongenital iris coloboma repair with excision of colobomatous sphincter muscle.
Journal of cataract and refractive surgeryFLACS in Congenital Iris Coloboma: A Useful Technique.
International medical case reports journalCataract surgery in eyes with congenital ocular coloboma.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieOcular coloboma: Genetic variants reveal a dynamic model of eye development.
American journal of medical genetics. Part C, Seminars in medical geneticsBuild 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 ophthalmologyThree cases of molecularly confirmed Knobloch syndrome.
Ophthalmic geneticsDexamethasone Implant Migration through an Iris Coloboma.
Case reports in ophthalmologyGenetics and functions of the retinoic acid pathway, with special emphasis on the eye.
Human genomics[Atypical location of lenticular coloboma].
The Pan African medical journalOculo-skeletal dysplasia in five Labrador Retrievers.
Veterinary ophthalmologyCombination of capsular tension ring and capsular tension segment for the management of lens coloboma >4 clock hours.
Indian journal of ophthalmologyClinical, histopathological and genetic characterisation of oculoskeletal dysplasia in the Northern Inuit Dog.
PloS oneAniridia with lenticular and choroidal coloboma.
European journal of ophthalmologyNeglected Congenital Glaucoma With Lens Coloboma.
Journal of glaucomaZebrafish mab21l2 mutants possess severe defects in optic cup morphogenesis, lens and cornea development.
Developmental dynamics : an official publication of the American Association of AnatomistsCataract surgery outcomes in eyes with chorioretinal coloboma.
Journal of cataract and refractive surgeryVisualization of the Superior Ocular Sulcus during Danio rerio Embryogenesis.
Journal of visualized experiments : JoVEBilateral congenital macular coloboma and cataract: A case report.
Medicine[Three-dimensional acoustic analysis in diagnostics of structural and morphological changes of the eye in certain congenital pathologies].
Vestnik oftalmologiiThe Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.
OphthalmologySectoral Ciliary Body Agenesis Complicated with Cataract Formation Diagnosed by Ultrasound Biomicroscopy.
Turkish journal of ophthalmologyClinical Presentation and Management Outcomes of Coexistent Congenital Glaucoma and Retinopathy of Prematurity.
Journal of glaucomaMultiloculated Ciliary Body Cysts and Lenticular Coloboma: A Rare Phenotypic Variation Associated With Persistent Fetal Vasculature.
Journal of pediatric ophthalmology and strabismusIdentification of Three Novel FBN1 Mutations and Their Phenotypic Relationship of Marfan Syndrome.
Genetic testing and molecular biomarkersBilateral lens coloboma associated with Marfan syndrome.
Indian journal of ophthalmologyCommentary: Modified sewing machine technique: An innovative method for the management of iridodialysis, iris coloboma, and scleral fixation of intraocular lenses.
Indian journal of ophthalmologyModified sewing machine technique for iridodialysis repair, intraocular lens relocation, iris coloboma repair, Cionni ring fixation, and scleral-fixated intraocular lens.
Indian journal of ophthalmologyRequirement of the Mowat-Wilson Syndrome Gene Zeb2 in the Differentiation and Maintenance of Non-photoreceptor Cell Types During Retinal Development.
Molecular neurobiologyThe cellular bases of choroid fissure formation and closure.
Developmental biologyLow-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 StrabismusMutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract.
Experimental & molecular medicineZika and the Eye: Pieces of a Puzzle.
Progress in retinal and eye researchSurgical technique for management of isolated lenticular coloboma with high corneal astigmatism.
Indian journal of ophthalmologyNew GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Human geneticsEndoscopic Vitrectomy for Microcornea, Posterior Megalolenticonus, Persistent Fetal Vasculature, Coloboma Syndrome.
OphthalmologySEVERE CASE OF RENAL COLOBOMA SYNDROME IN LONG-TERM FOLLOW-UP.
Retinal cases & brief reportsVitrectomy-assisted phacoemulsification for lenticular coloboma.
Journal of cataract and refractive surgeryBilateral ectopia lentis with isolated lens coloboma in Marfan syndrome.
GMS ophthalmology casesCoexistence of optic pit and coloboma of iris, lens, and choroid: a case report.
Arquivos brasileiros de oftalmologiaIdentification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.
Human geneticsLoss of Axin2 Causes Ocular Defects During Mouse Eye Development.
Investigative ophthalmology & visual scienceTwo missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.
Ophthalmic geneticsTetraploid/Diploid Mosaicism in Cultured Genital Skin Fibroblasts: Is It Causally Related to Penoscrotal Hypospadias?
Molecular syndromologyPrevalence of Childhood Blindness and Ocular Morbidity in a Rural Pediatric Population in Southern India: The Pavagada Pediatric Eye Disease Study-1.
Ophthalmic epidemiologyA 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 StrabismusOcular Findings in Infants With Microcephaly Associated With Presumed Zika Virus Congenital Infection in Salvador, Brazil.
JAMA ophthalmologyOutcome of Capsular Tension Ring (CTR) Implant in Complicated Cataracts.
Journal of clinical and diagnostic research : JCDR[About Cryptophthalmos (2nd Czech Study)].
Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnostiFibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #8.
Journal of cataract and refractive surgeryFibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #7.
Journal of cataract and refractive surgeryFibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #6.
Journal of cataract and refractive surgeryFibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #4.
Journal of cataract and refractive surgeryFibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #5.
Journal of cataract and refractive surgeryFibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #3.
Journal of cataract and refractive surgeryFibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #2.
Journal of cataract and refractive surgeryFibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #1.
Journal of cataract and refractive surgeryCharacteristic of low vision patients attending an eye hospital in eastern region of Nepal.
Nepalese journal of ophthalmology : a biannual peer-reviewed academic journal of the Nepal Ophthalmic Society : NEPJOPHBilateral isolated lens coloboma associated with bicuspid aortic valve.
Arquivos brasileiros de oftalmologiaMouse Models for the Dissection of CHD7 Functions in Eye Development and the Molecular Basis for Ocular Defects in CHARGE Syndrome.
Investigative ophthalmology & visual scienceIndications and clinical outcomes of capsular tension ring implantation in phacoemulsification surgery at a tertiary teaching hospital: A review of 4316 cataract surgeries.
Journal francais d'ophtalmologieLens coloboma treated with lens surgery.
BMJ case reportsNegative and positive auto-regulation of BMP expression in early eye development.
Developmental biologyBilateral microphthalmos with cyst in a neonatal foal.
Veterinary ophthalmologyClinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.
American journal of medical genetics. Part AEye morphogenesis driven by epithelial flow into the optic cup facilitated by modulation of bone morphogenetic protein.
eLifeMutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.
PLoS geneticsWnt ligands from the embryonic surface ectoderm regulate 'bimetallic strip' optic cup morphogenesis in mouse.
Development (Cambridge, England)Long-term outcomes on lens clarity after lens-sparing vitrectomy for retinopathy of prematurity.
OphthalmologyCataract surgery in infants with microphthalmos.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieAbrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy.
Investigative ophthalmology & visual scienceAssociações
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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.
- Isolated Lenticular Coloboma in an Atypical Location With Early Cataract Formation: A Case Report.
- Cataract Extraction with Capsular Bag Scleral Fixation in a Patient with a Congenital Lens Coloboma.
- GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.
- Microspherophakia with an atypical temporal iris coloboma in a young female.
- A zebrafish model of crim1 loss of function has small and misshapen lenses with dysregulated clic4 and fgf1b expression.
- Long term outcome of in situ scleral fixation of subluxated capsular bag - intraocular lens complex.
- Pathobiology of the crystalline lens in Stickler syndrome.
- Unilateral pigmented posterior lenticonus with retinochoroidal coloboma: a case report.
- Couching of cataractous lens in microphthalmic eyes with irido-fundal coloboma: revisiting the historical technique.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:98943(Orphanet)
- MONDO:0020355(MONDO)
- GARD:1433(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1462309(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
