Article
Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.
American journal of medical genetics. Part A - 1 Apr 2023
Albakri Amani, Pisuchpen Phattrawan, Capasso Jenina E, Schneider Adele, Kopinsky Sarina, Glaser Tom, Chiang John P-W, Yomai Anamaria Akapito, McNear Donna, Levin Alex V
Abstract excerpt
The purpose of this article is to determine the cause of Leber congenital amaurosis (LCA) in Chuuk state, Federated States of Micronesia (FSM). In this prospective observational case series, five patients with early-onset vision loss were examined in Chuuk state, FSM, during an ocular genetics visit to study the elevated incidence of microphthalmia. Because of their low vision these patients were incorrectly...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.