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GENATLAS PHENOTYPE
last update : 06-07-2011
Symbol LCA12
Location 1q32.3
Name Leber congenital amaurosis, type 12
Corresponding gene RD3
Main clinical features
  • poor vision since birth: nystagmus and atrophic lesions in the macular area, with pigment migration
  • fundus examination showed round atrophic lesions in both maculae, and a cellophane-like sheen and atrophy in the other regions of the posterior poles
  • at ERG, a CRD pattern, with cone ERG b-wave amplitudes at about one-third of normal and rod ERG amplitudes at 80p100 of normal levels
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    abnormal splicing   truncated protein  
    Remark(s) . mutation in the RD3 gene that also causes premature protein truncation is responsible for Leber congenital amaurosis type 12 (PMID: 21078983))