A de novo FBN1 variant likely causes congenital bilateral ectopia lentis in a crossbred horse.

ABSTRACT: Although several inherited ocular disorders have been extensively studied in horses, few reports of equine ectopia lentis exist and no genetic investigations have been reported. Ectopia lentis in humans and other species is reported to be caused by trauma, genetic variants, and systemic diseases. The most commonly reported genetic causes are dominant alleles in FBN1. Here we examined a 3-day old Oldenburg x Thoroughbred colt due to concerns over bilateral ocular anomalies and hypothesized that either a recessively inherited allele or a dominant de novo allele was the genetic cause. Examination revealed bilateral microphakia and spherophakia with medioventral lens subluxation. Histopathology of the globes was consistent with ectopia lentis. Whole genome sequencing of the affected foal was c

SUBMITTER: Esdaile E 

PROVIDER: S-EPMC12552744 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature