Axenfeld-Rieger syndrome: more than meets the eye.

ABSTRACT:

Background

Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS subtypes with distinct phenotypes, but our understanding is incomplete, complicated by the rarity of the condition.

Methods

Genetic and phenotypic characterisation of the largest reported ARS cohort through comprehensive genetic and clinical data analyses.

Results

128 individuals with causative variants in PITX2 or FOXC1, including 81 new cases, were investigated. Ocular anomalies showed significant overlap but with broader variability and earlier onset of glaucoma for FOXC1-related ARS. Systemic anomalies were seen in all individuals with PITX2-related ARS and t

SUBMITTER: Reis LM 

PROVIDER: S-EPMC9912354 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature