====== 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====
  * {{ ::ocular_feature_of_ngly1_deficiency_from_a_prospective_lingitudinal_cohort_2023.pdf |Frater CH et al. Ocular features of NGLY1 deficiency from a prospective longitudinal cohort. J AAPOS 2024;28:103925}}

{{tag>syndrome}}