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GENATLAS PHENOTYPE
last update : 5/09/2006
Symbol RDH5
Location 12q13-q14
Name fundus albipunctatus, congenital stationary night blindness
Corresponding gene RDH5
Main clinical features
  • characterized by numerous small subretinal white spots, normal retinal vessels but delayed dark adaptation
  • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder eye
    Type disease
    Gene product
    Name 11-cis, retinol dehydrogenase (RDH5)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown