Literature DB >> 27617135

A Case of Anterior Segment Dysgenesis with Iridolenticular Adhesions in Trisomy 18.

Paldeep S Atwal1.   

Abstract

Trisomy 18 (or Edwards syndrome) has an incidence of 1 in 6,000 to 8,000 live births, making it the second most common trisomy after trisomy 21. Ophthalmologic anomalies include epicanthal folds, hypertelorism, and hypoplastic supraorbital ridges, whereas corneal opacities, microcornea, congenital glaucoma, cataract, retinal depigmentation, retinal vascular tortuosity, colobomatous microphthalmia, and cyclopia are thought to be less common; iridolenticular adhesions have not been previously reported. Our patient was a female with confirmed trisomy 18 with ophthalmologic examination revealing corneal opacities and iridolenticular adhesions. Insofar as corneal opacities are a known entity in trisomy 18 and have been considered by some to be of clinical importance, iridolenticular adhesions may also be a noteworthy manifestation of the disease's anterior segment dysgenesis.

Entities:  

Keywords:  anterior segment dysgenesis; iridolenticular adhesions; trisomy 18

Year:  2015        PMID: 27617135      PMCID: PMC4906529          DOI: 10.1055/s-0035-1565266

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN: 2146-460X


  2 in total

1.  Ocular pathology in congenital heart disease.

Authors:  A M Mansour; F F Bitar; E I Traboulsi; K M Kassak; M Y Obeid; A Megarbane; H I Salti
Journal:  Eye (Lond)       Date:  2005-01       Impact factor: 3.775

2.  Ocular pathology in trisomy 18. A histopathological report of three cases.

Authors:  C M Velzeboer; J J van der Harten; F D Koole
Journal:  Ophthalmic Paediatr Genet       Date:  1989-12
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.