1.
Taiwan J Ophthalmol
; 13(4): 500-504, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38249510
RESUMO
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.