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GENATLAS PHENOTYPE
last update : 17-02-2012
Symbol RCD4
Location 12p13
Name retinal cone dystrophy 4
Corresponding gene CACNA2D4
Main clinical features
  • mild decrease in visual acuity in the 3rd decade of life without night blindness, with moderate photophobia since early childhood, with abnormal color vision, and at photopic ERG, abnormal cone response
  • incomplete type shows some rod function on scotopic testing and is accompanied by refraction ranging from moderate hyperopia to moderate myopia, and characterized by both a reduced rod b-wave and substantially reduced cone responses because of both ON- and OFF-bipolar cell dysfunction (PMID: 22325361))
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Remark(s)