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

Genetics of the anterior segment dysgenesis

Diego I Paredes  1   2 , Jenina E Capasso  1   3 , Celeste S Wyman  1   3 , Alex V Levin  1   3
Affiliations
Review

Genetics of the anterior segment dysgenesis

Diego I Paredes et al. Taiwan J Ophthalmol. .

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.

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Conflict of interest statement

The authors declare that there are no conflicts of interests of this paper.

Figures

Figure 1
Figure 1
Diagnostic algorithm for phenotyping and genotyping anterior segment dysgeneses. Most frequent genes indicated
See this image and copyright information in PMC

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