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GENATLAS PHENOTYPE
last update : 07-10-2016
Symbol LCA17
Location 8q22.1
Name Leber congenital amaurosis 17
Corresponding gene GDF6
Main clinical features
  • early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction
  • patients usually present at birth with profound vision loss and pendular nystagmus
  • electroretinogram (ERG) responses are usually nonrecordable
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Remark(s)