Table of Contents
NGLY1 Deficiency
Eye Findings
Other Findings
Etiology
Resources
NGLY1 Deficiency
Global developmental delay
Intellectual diability
Hypotonia
Hypo- or alacrima
Eye Findings
Hypolacrima (83%)
Incomplete or abnormal blink (73%)
Optic disc abnormalities (73%)
Peripapillary atrophy, cupping
Corneal abnormalities typically found with dry eye
punctate epithelial erosions
pannus and neovascularization
Conjunctival injection (60%)
Strabismus (33%)
Exotropia > Esotropia
Restricted ocular movements
Iris abnormalities
Reduced pupillary reactivity (47%)
Irregular iris (27%)
Nystagmus- rare
Other Findings
Increased liver transaminases
Polyneuropathy
Etiology
Autosomal Recessive
Loss-of-function variants of the NGLY1 encoding N-glycanase 1
an enzyme that removes the sugar moiety from proteins
cleaves N-glycans to generate deglycosylated proteins and oligosaccharides containing 1-amino-GlcNac
degrades misfolded proteins in the endoplasmic reticulum
Resources
Frater CH et al. Ocular features of NGLY1 deficiency from a prospective longitudinal cohort. J AAPOS 2024;28:103925
syndrome