Leber Congenital Amaurosis: Leading Cause of Inherited Blindness in Children

Leber congenital amaurosis is a group of severe congenital retinal conditions and the leading cause of inherited blindness in children. Symptoms, typically present in the first 6 months of life, include nystagmus, strabismus, photophobia, abnormal or absent pupillary responses, and cataracts. Eye exami-nations and visual assessments are an essential part of well-child visits. The primary care practitioner may be the first to identify symptoms or hear parents' concerning findings during routine eye examinations at well-child or episodic visits. Early recognition of deviations from normal that lead to prompt ophthal-mology referrals can result in timely diagnosis and optimized treatment to improve outcomes and quality of life.(c) 2023 Published by Elsevier Inc.