Clinical and demographic parameters of adult patients with hereditary retinal diseases

Relevance With the development of gene-specific therapy for hereditary retinal diseases (HRD) worldwide, there is a growing interest and need for clinical and genetic identification of patients with these diseases. For most patients with HRD, the first visit to an ophthalmologist occurs in adulthood [1–3]. Objective To assess the clinical and demographic indicators of adult patients with HRD. Material and methods The study included 139 patients (275 eyes) with central (Group 1, 49 patients and 98 eyes), peripheral (Group 2, 60 patients and 117 eyes), and mixed (central and peripheral, Group 3 – 30 patients and 60 eyes) forms of HRD. Demographic indicators were studied and visual acuity (VA) was assessed using the Golovin-Sivtsev table. Results The age of NZS debut was 27.6 ± 27.5 years (1–66); the age of the initial visit to an ophthalmologist was 33.2 ± 34 (2–71), the duration of the disease at the time of examination was 16.2 ± 12.5 (1–65), these indicators did not differ significantly in groups 1–3. Primary complaints occurred in 79% of patients aged 18 to 65 years and in 21% of patients aged 1 to 18 years. The VA was 0.31 ± 0.2 (0.01–1) in group 1, 0.5 ± 0.5 (0.005–1) in group 2, and 0.34 ± 0.2 (0.005–1) in group 3. Statistically significant differences in VA were obtained in groups 1–2 (p < 0.000001) and 2–3 (p < 0.0008). An inverse correlation was found between VA and the duration of NZS in group 1 K = –0.42 (p < 0.005) and group 3 K = –0.61 (p < 0.001). Conclusion When examining adult patients, the prevalence of NZS manifestation was revealed at the age of 18 years and older. A more pronounced decrease in VA was found in the group with central NZS compared to peripheral. An inverse correlation was found between VA and the duration of NZS in central and mixed forms of NZS. Keywords: gene-specific therapy; hereditary retinal diseases