Early symptoms in RPGR-associated retinal degeneration: can we shorten time to diagnosis in the gene therapy era?

Purpose: To describe the earliest characteristics of patients with retinitis pigmentosa GTPase regulator-related retinal degeneration (RPGR-RD).

Methods: A retrospective chart review was conducted for patients evaluated at the University of Michigan, Kellogg Eye Center. Patients were classified into 3 phenotypes: rod-cone (RC), cone/cone-rod (CR), and female carriers. Chart review data included clinical diagnosis, age at symptom onset, family history of inherited retinal disease (IRD), patient-reported symptoms, refractive error, and genetic testing information. The relationship between certain covariates and time between (a) symptoms and diagnoses and (b) diagnosis and genetic testing was investigated with proportional hazard modeling.

Results: The charts of 131 patients were included: 82 RC, 31 CR, and 18 females. The median (range) ages at symptom onset were: RC, 6 (1-42) years; CR, 28 (1-47) years; and females, 11 (5-34) years. Most (83%) had a family history of IRD. The most common first-documented symptoms were: RC, peripheral vision loss (85%); CR, decreased vision (50%); females, night blindness (57%) and peripheral vision loss (57%). Most patients (80%) were myopic; 24% had high myopia. Time from clinical to genetic diagnosis was shorter given IRD family history (P < 0.001).

Conclusion: This study identified characteristics to facilitate earlier diagnosis of RPGR-RD, potentially shortening time to treatment and preventing further vision loss.