Genetics of the anterior segment dysgenesis-Reference-Cited by-同舟云学术

Genetics of the anterior segment dysgenesis

Published:2023 Issue:4 Volume:13 Page:500-504
ISSN:2211-5056
Container-title:Taiwan Journal of Ophthalmology
language:en
Short-container-title:

Author:

Paredes Diego I.¹²,Capasso Jenina E.¹³,Wyman Celeste S.¹³,Levin Alex V.¹³

Affiliation:

1. Department of Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, University of Rochester, Rochester, New York, USA

2. Department of Ophthalmology, School of Medicine, Pontificia Universidad Catolica de Chile, Santiago, Chile

3. Department of Clinical Genetics, Golisano Children’s Hospital, University of Rochester, Rochester, New York, USA

Abstract

The anterior segment dysgeneses are a broad group of heterogeneous disorders characterized by developmental abnormalities of the anterior segment of the eye, including primary congenital aphakia, Peters sequence, aniridia, and Axenfeld–Rieger spectrum. These conditions can have overlapping phenotypes and both genotypic and phenotypic heterogeneity. This article provides a strategy for both phenotyping and then genotyping using a targeted stepwise approach.

Publisher

Medknow

Subject

Ophthalmology

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