Ocular features of NGLY1 deficiency from a prospective longitudinal cohort

NGLY1 deficiency is a rare autosomal recessive disorder with core features of global developmental delay, liver enzyme abnormalities, movement disorder, polyneuropathy, and hypo- or alacrima. We characterized the full spectrum and evolution of the ocular phenotype in a prospective natural history of NGLY1 deficiency.

Source: Journal of AAPOS - April 29, 2024 Category: Opthalmology Authors: Christina H. Frater, Maura R.Z. Ruzhnikov, Shannon Beres, Deborah Alcorn, Ann Shue, Rebecca J. Levy Tags: Major Article Source Type: research