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Article

Ocular features of NGLY1 deficiency from a prospective longitudinal cohort.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Jun 2024

Frater Christina H, Ruzhnikov Maura R Z, Beres Shannon, Alcorn Deborah, Shue Ann, Levy Rebecca J

Abstract excerpt

BACKGROUND: 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. METHODS: We collected ophthalmological data on 29 individuals with NGLY1 deficiency...

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Identifiers

PMID: 38697387
DOI: 10.1016/j.jaapos.2024.103925

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