Comparison of Anterior Segment Abnormalities in Individuals With FOXC1 and PITX2 Variants.

ABSTRACT:

Purpose

Axenfeld-Rieger syndrome encompasses a group of developmental disorders affecting the anterior chamber structures of the eye, with associated systemic features in some cases. This study aims to compare the difference in anterior segment phenotypes such as those involving the cornea, iris, lens, and anterior chamber angle between cases with disease-causing sequence variations in FOXC1 and PITX2 .

Methods

This cross-sectional study involved 61 individuals, from 32 families with pathogenic FOXC1 or PITX2 variants, who were registered with the Australian and New Zealand Registry of Advanced Glaucoma.

Results

The median age of the cohort was 39 years at the time of last assessment (range 3-85 years; females, 54%). Thirty-two patients had pathogenic variants in the

SUBMITTER: Prem Senthil M 

PROVIDER: S-EPMC9390227 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature