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GENATLAS PHENOTYPE
last update : 18/07/2006
Symbol LCA6
Location 14q11.2
Name Leber congenital amaurosis, type 6
Corresponding gene RPGRIP1
Main clinical features
  • characterized by 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
    • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Gene product
    Name accounting to 5/6% of cases of LCA
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function in a segment encoding two C2 domains
    Remark(s)