J Pediatr Genet 2015; 04(04): 207-208
DOI: 10.1055/s-0035-1565266
Case Report
Georg Thieme Verlag KG Stuttgart · New York

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

Paldeep S. Atwal
1   Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, California, United States
› Author Affiliations
Further Information

Publication History

24 February 2015

01 April 2015

Publication Date:
14 October 2015 (online)

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.

 
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