Genetics of the anterior segment dysgenesis

Diego I Paredes; Jenina E Capasso; Celeste S Wyman; Alex V Levin

doi:10.4103/tjo.TJO-D-23-00062

Genetics of the anterior segment dysgenesis

Taiwan J Ophthalmol. 2023 Jul 18;13(4):500-504. doi: 10.4103/tjo.TJO-D-23-00062. eCollection 2023 Oct-Dec.

Authors

Diego I Paredes^{1

2}, Jenina E Capasso^{1

3}, Celeste S Wyman^{1

3}, Alex V Levin^{1

3}

Affiliations

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.

Keywords: Anterior segment mesenchymal dysgenesis; cornea; lens.

Publication types

Review