Descriptive study of patients with nonsyndromic retinitis pigmentosa

Purpose The aim of this study was to describe the demographic and clinical characteristics of a large cohort of patients with retinitis pigmentosa (RP) in Egypt. Patients and methods An extensive electronic medical record search was performed to gather data on all patients with RP who were evaluated at two major referral hospitals: Ain Shams University Hospital and Watany Eye Hospital, Cairo, Egypt during a 7-year period from January 2015 to October 2022. The age at last visit, sex, family history, history of parental consanguinity, status of the fundus, lens, and macula, visual acuity, visual field, and electroretinogram (ERG) data were recorded. Results The study included 766 patients with nonsyndromic RP. They were diagnosed based on either clinical examination alone or clinical examination and superadded investigations in the form of any of the following: color fundus photography, fundus autofluorescence, fundus fluorescein angiography, optical coherence tomography, and/or electrophysiological studies such as full-field and pattern ERG. The mean age at the last visit was 39.6±17.3 years, and 57.9% of the patients were males. Cataract was found in 343 (44.8%) patients, of whom 178 (51.9%) patients underwent cataract surgery. ERG was reduced in 12.9% and abolished in 87.1% of the patients. The foveal area was preserved in five (4.9%) patients, atrophic in 72 (69.9%), edematous in 13 (12.6%), and revealed an epiretinal membrane in 37 (35.9%) patients. A hyperautofluorescent ring was present in 87.5% of the patients. Conclusions Cataract was a significant comorbidity in patients with RP, and atrophic macula was the most prevalent among the macular status changes. RP is the subject of clinical intervention trials, and population-based epidemiological data can guide genetic testing and provide more candidates for possible gene therapy and other new treatment modalities.