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GENATLAS PHENOTYPE
last update : 03-12-2020
Symbol RP88
Location 8p23.1
Name retinitis pigmentosa 88
Corresponding gene RP1L1
Main clinical features
  • night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity
  • examination shows typical findings of RP, including attenuated retinal vessels, pale optic discs, and pigment deposits in the peripheral retinal pigment epithelium
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Remark(s)