Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye.

ABSTRACT:

Importance

Exfoliation syndrome is a systemic disorder characterized by progressive accumulation of abnormal fibrillar protein aggregates manifesting clinically in the anterior chamber of the eye. This disorder is the most commonly known cause of glaucoma and a major cause of irreversible blindness.

Objective

To determine if exfoliation syndrome is associated with rare, protein-changing variants predicted to impair protein function.

Design, setting, and participants

A 2-stage, case-control, whole-exome sequencing association study with a discovery cohort and 2 independently ascertained validation cohorts. Study participants from 14 countries were enrolled between February 1999 and December 2019. The date of last clinical follow-up was December 2019. Affected individua

SUBMITTER: Genetics of Exfoliation Syndrome Partnership 

PROVIDER: S-EPMC7903258 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature