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GENATLAS PHENOTYPE
last update : 29-05-2013
Symbol LCA1
Location 17p13.1
Name Leber congenital amaurosis, type 1
Corresponding gene GUCY2D
related resource Retinal Information Network
Other symbol(s) LCA
Main clinical features
  • congenital non evolutive blindness, with pendular nystagmus, roving eye movements, absent ocular pursuit and eye poking, severe photophobia and hypermetropia, normal fundus at birth followed by salt and pepper aspect of retina and typical RP, non recordable ERG
    • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Gene product
    Name retinal specific guanylate cyclase
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     mutated in all coding exons except exons 11 to 13 (GUCY2D), mutations responsible for a congenital cone-rod dystrophy with dramatic and invariable cone dysfunction
    Remark(s) . some missense mutations in LCA1 patients result in a severe loss of function by inactivating its catalytic activity and/or ability to interact with the activator proteins, GCAPs (PMID: 23035049 )