The study included a total of 311 eyes of 156 patients (101 female) with ABCA4-related retinopathy (mean age 38.77 years, total range 9.43–86.12 years) and 108 eyes of 54 controls (35 female, mean age 39.24 years, total range 13.14–77.02 years). The gene discussed is ABCA4; the disease is retinal disorder.