Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients.

ABSTRACT:

Background

Congenital aniridia is a rare pan-ocular disease characterized by complete irideremia, partial iridocoloboma. The progressive nature of aniridia is frequently accompanied by secondary ocular complications such as glaucoma and aniridia-associated keratopathy, which can lead to severely impaired vision or blindness. The genetic basis of aniridia has been the subject of numerous studies, leading to the development of innovative therapeutic options based on PAX6 nonsense mutations. Specific knowledge of the genetics of aniridia has become increasingly important. To report the clinical features, elucidate the genetic etiology, and reveal the mutational spectrum of congenital aniridia in the Chinese population, sixty patients with congenital aniridia from 51 families were recr

SUBMITTER: Wang L 

PROVIDER: S-EPMC11515619 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature