Rare association of lens coloboma and retinitis pigmentosa in Marfan syndrome
Journal of Clinical Ophthalmology and ResearchA 17-year-old female, a known case of Marfan syndrome, presented with complaints of diminution of vision in both the eyes for 10 years. Clinical examination revealed that the presence of lens coloboma with advanced retinitis pigmentosa (RP) in the right ...
Anushri Godbole +6 more
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Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.
PLoS Genetics, 2015 Ocular coloboma results from abnormal embryonic development and is often associated with additional ocular and systemic features. Coloboma is a highly heterogeneous disorder with many cases remaining unexplained.
Brett Deml +5 more
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Phenotypic Refinement of ESAM-Related Tight-Junctionopathy: Novel Genetic and Ocular Findings and Literature Review. [PDF]
Mol Genet Genomic MedOverview of neurological, ocular, and genetic findings in individuals with bi‐allelic loss‐of‐function (LoF) ESAM variants. All affected subjects (n = 21) exhibited characteristic neurovascular and neurodevelopmental anomalies, while 45% also showed ocular (mainly retinal) involvement.
Lecca M +7 more
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Expanded Phenotype of PAX2-Related Papillorenal Syndrome: A Case Featuring FSGS, Atypical Retinopathy, Cerebellar Hypoplasia, and ADHD. [PDF]
Clin Case RepABSTRACT Papillorenal syndrome (PAPRS), or renal coloboma syndrome, is a rare autosomal dominant disorder caused by PAX2 mutations. It classically manifests with renal hypodysplasia and optic nerve anomalies. However, recent literature suggests an expanding phenotypic spectrum.
Sultana N, Mamun AA, Begum A.
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Surgical technique for management of isolated lenticular coloboma with high corneal astigmatism
Indian Journal of Ophthalmology, 2018 We describe a surgical technique for the correction of isolated congenital lenticular coloboma associated with high corneal astigmatism. Transscleral fixation of the capsular bag with a single eyelet Cionni capsular tension ring was followed by in-the ...
Simar Rajan Singh +3 more
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Journal of Clinical Ophthalmology and ResearchOcular coloboma can involve various structures, e.g., iris, lens, eyelid, zonules, retina-choroid, and optic disc. Here, we have discussed a rare co-occurrence of macular coloboma and optic disc coloboma (ODC) in the same patient.
Avik Dey Sarkar +3 more
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Ophthalmologic Findings in an Induced Model of Holoprosencephaly in Zebrafish. [PDF]
J Comp NeurolWe used a zebrafish (Danio rerio) model to variably induce bmp4 during embryonic development. We show ophthalmologic phenotypes of variable severity depending on the length and onset of bmp4 inductions. We find phenotypes like ocular hypotelorism, synophthalmia, cyclopia, and anophthalmia, which are described to be part of the HPE spectrum.
Bulk J, Kyrychenko V, Heermann S.
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Single lens to lens duplication: The missing link
Indian Journal of Ophthalmology, 2008 Congenital anomalies of the lens include a wide range from lens coloboma to primary aphakia and doubling of lens. There have been few case reports of double lens; the etiology suggested is metaplastic changes in the surface ectoderm that leads to ...
Bhatt Rupal +3 more
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Bilateral lens coloboma associated with Marfan syndrome [PDF]
Indian Journal of Ophthalmology, 2018 Gaurav Gupta +3 more
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Is it a coloboma or not? A new definition for isolated lens coloboma: focal zonular dysgenesis
The Pan-American Journal of Ophthalmology, 2023 Purpose: Ocular coloboma is defined as a congenital malformation caused by defective closure of the fetal fissure, resulting in a notch in any structure.
Nicole B Larivoir +5 more
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