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References OMIM Gene GeneReviews HGMD HGNC
last update : 04-10-2016
Symbol LCA9
Location 1p36.22
Name Leber congenital amaurosis, type 9
Corresponding gene NMNAT1
Main clinical features
  • congenital non evolutive blindness, with pendular nystagmus, anterior keratoconus, roving eye movements, absent ocular pursuit and eye poking, severe photophobia, hypermetropia, normal fundus at birth followed by salt and pepper aspect of retina and typical RP, non recordable ERG
  • single consanguineous Pakistani kindred
    Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
  • LCA9-associated NMNAT1 mutants are more vulnerable to stressful conditions that lead to protein unfolding, a potential contributor to the retinal degeneration observed in this syndrome (PMID: 26018082))