Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.

ABSTRACT: Development of the anterior segment of the eye requires reciprocal sequential interactions between the arising tissues, facilitated by numerous genetic factors. Disruption of any of these processes results in congenital anomalies in the affected tissue(s) leading to anterior segment disorders (ASD) including aniridia, Axenfeld-Rieger anomaly, congenital corneal opacities (Peters anomaly, cornea plana, congenital primary aphakia), and primary congenital glaucoma. Current understanding of the genetic factors involved in ASD remains incomplete, with approximately 50% overall receiving a genetic diagnosis. While some genes are strongly associated with a specific clinical diagnosis, the majority of known factors are linked with highly variable phenotypic presentations, with pathogenic variants

SUBMITTER: Reis LM 

PROVIDER: S-EPMC11392650 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature