Longitudinal Analysis of Functional and Structural Outcome Measures in PRPH2-Associated Retinal Dystrophy

Purpose: To establish disease progression rates in total lesion size (TLS), decreased autofluorescence (DAF) area, total macular volume (TMV), and mean macular sensitivity (MMS) in PRPH2-associated retinal dystrophy.

Design: Single-center, retrospective chart review.

Participants: Patients with heterozygous pathogenic or likely pathogenic PRPH2 variants.

Methods: Patients who underwent serial ultrawide-field (UWF) fundus autofluorescence (FAF), OCT, and Macular Integrity Assessment microperimetry with at least 1 year of follow-up were included. Linear correlation was performed in eyes of all patients to determine the rate of change over time.

Main outcome measures: Outcome measures included changes in TLS, DAF area, TMV, and MMS.

Results: Twelve patients (mean age, 55) from 10 unrelated families attended 100 clinic visits, which spanned over a mean (SD) of 4.7 (2.0) years. Mean (SD) TLS and DAF radius expansion were 0.14 (0.12) and 0.10 (0.08) mm/year, respectively. Mean (SD) TMV change was -0.071 (0.040) mm³/year with no interocular difference (P = 0.20) and strong interocular correlation (r² = 0.88, P < 0.01). Mean (SD) MMS change was -0.10 (1.25) dB/year. Mean macular sensitivity declined in 4 and improved in 6 patients. Mean macular sensitivity was subnormal despite a TMV within the normal range.

Conclusions: Serial measurements of UWF-FAF-derived TLS and DAF showed slow expansion. Total macular volume might be a more sensitive measure than MMS in detecting disease progression.