نتایج جستجو برای: choroidal coloboma
تعداد نتایج: 9549 فیلتر نتایج به سال:
A common renal phenotype of paired box protein 2 (PAX2) mutations is renal coloboma syndrome. We report a single family with diverse renal phenotypes associated with PAX2 mutation. The proband presented steroid-resistant focal segmental glomerulosclerosis with optic coloboma, whereas his two sons showed severe renal hypoplasia with end-stage renal disease, with or without optic coloboma. In all...
A lens coloboma is not a true coloboma; it is just a zonular absence that causes a defect in the lens equator and hence a more spherical lens. It can be isolated or in association with iris, choroid or retinal colobomas. Typically the defect is present at the site of the embryonic fissure, but it can be present elsewhere. This congenital defect can cause amblyopia, especially when it is associa...
The chicken coloboma mutation exhibits features similar to human congenital developmental malformations such as ocular coloboma, cleft-palate, dwarfism, and polydactyly. The coloboma-associated region and encoded genes were investigated using advanced genomic, genetic, and gene expression technologies. Initially, the mutation was linked to a 990 kb region encoding 11 genes; the application of t...
OBJECTIVE To assess the visual outcome after surgical removal of choroidal neovascularization (CNV) in pediatric patients. METHODS A retrospective, noncomparative, consecutive case series of 17 eyes undergoing surgical removal of CNV of various causes in patients aged 18 years and younger. RESULTS The cause of the CNV was presumed ocular histoplasmosis syndrome in 11 eyes, idiopathic in 3, ...
Cat eye syndrome (CES) is a rare malformation syndrome with a variable pattern of congenital anomalies. The characteristic features of CES include ocular coloboma, preauricular pits or tags, anal anomalies, and congenital heart and renal malformations. Furthermore, CES may be associated with other craniofacial malformations, skeletal anomalies, and, in some cases, with mental retardation. 2 In ...
Purpose This study aims to describe the phenotypes and identify pathogenic mutations in Chinese patients who have congenital cataracts associated with other ocular abnormalities. Methods Eleven patients from four unrelated Chinese families plus two simplex cases were enrolled in this study. Detailed ophthalmic examinations were performed. DNA samples were isolated from peripheral blood collec...
Ocular coloboma is a congenital defect resulting from failure of normal closure of the optic fissure during embryonic eye development. This birth defect causes childhood blindness worldwide, yet the genetic etiology is poorly understood. Here, we identified a novel homozygous mutation in the SALL2 gene in members of a consanguineous family affected with non-syndromic ocular coloboma variably af...
Purpose: To report a case of peripapillary intrachoroidal cavitation (choroidal schisis) and optic pit in a case of high myopia and open-angle glaucoma. Case report: A 30-year-old high myopic man was referred to our clinic for presumed peripapillary choroidal tumors. In funduscopy, there were two yellow-orange and slightly elevated peripapillary lesions in both eyes with indistinct margins. A s...
The authors relate an uncommon case of combined hamartoma of the retina and retinal pigment epithelium associated with optic coloboma.
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