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GENATLAS PHENOTYPE
last update : 13-11-2024
Symbol RDCCAS
Location 10q23.33
Name retinal dystrophy, iris coloboma, and comedogenic acne syndrome
Corresponding gene RBP4
Main clinical features
  • night vision problems since early childhood with severe comedogenic acne
  • scotopic electroretinogram (ERG) responses were reduced or undetectable, whereas photopic responses were normal
  • associted with retinal dystrophy, who had no detectable serum RBP
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    eye
    Type disease
    Remark(s)