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GENATLAS PHENOTYPE
last update : 03-12-2020
Symbol RPSI
Location 16q13
Name retinitis pigmentosa with situs inversus (or not)
Corresponding gene ARL2BP
Other symbol(s) RP82
Main clinical features
  • initial loss of rod photoreceptors and the resulting impaired night vision followed by progressive visual-field constriction as both rod and cone photoreceptors die
  • in any cases computed-tomography imaging revealed full thoracic and abdominal situs inversus
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Remark(s)