CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study

Purpose: To describe the phenotype and clinical course of patients with RPGR-associated retinal dystrophies, and to identify genotype–phenotype correlations. Methods: A multicenter medical records review of 74 male patients with RPGR-associated retinal dystrophies. Results: Patients had retinitis pigmentosa (RP; n = 52; 70%), cone dystrophy (COD; n = 5; 7%), or cone-rod dystrophy (CORD; n = 17; 23%). The median follow-up time was 11.6 years (range 0–57.1). The median age at symptom onset was 5.0 years (range 0–14 years) for patients with RP and 23.0 years (range 0–60 years) for patients with COD/CORD. The probability of being blind (best-corrected visual acuity
Source: RETINA - Category: Opthalmology Tags: Original Study Source Type: research