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GENATLAS PHENOTYPE
last update : 18/07/2006
Symbol LCA2
Location 1p31.1
Name Leber congenital amaurosis, type 2
Corresponding gene RPE65
related resource Retinal Information Network
Main clinical features
  • characterized by congenital blindness with pendular nystagmus, roving eye movements, absent ocular pursuit and eye poking, night blindness, normal fundus at birth followed by salt and pepper aspect of retina and typical aspect of RP, non recordable ERG, presenting a transient improvement during evolution
    • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Gene product
    Name retinal pigment epithelium, 65 (RPE65)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function H241A, H313A, H527A, mutation of iron-coordinating residues
    various types   abnormal protein/loss of function CC329/330SS, C330Y, mutations of the palmitoylation switch cysteines
    Remark(s)