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

• DOI: 10.1016/j.oret.2022.06.017
• Publication Date: 2022-07-02T16:09:02Z
• Authors: Rachael C. Heath ...; Jennifer A. Thompson; Tina M. Lamey; Terri L. McLaren; John N. De Roach; Ian L. McAllister; Ian J. Constable; Fred K. Chen
• Keywords: Microperimetry; Macular dystrophy; Fundus (uterus)

To establish disease progression rates in total lesion size (TLS), decreased autofluorescence (DAF) area, macular volume (TMV), and mean sensitivity (MMS) PRPH2-associated retinal dystrophy.Single-center, retrospective chart review.Patients with heterozygous pathogenic or likely PRPH2 variants.Patients who underwent serial ultrawide-field (UWF) fundus (FAF), OCT, Macular Integrity Assessment microperimetry at least 1 year of follow-up were included. Linear correlation was performed eyes all patients to determine the rate change over time.Outcome measures included changes TLS, DAF TMV, MMS.Twelve (mean age, 55) from 10 unrelated families attended 100 clinic visits, which spanned a (SD) 4.7 (2.0) years. Mean TLS radius expansion 0.14 (0.12) 0.10 (0.08) mm/year, respectively. TMV -0.071 (0.040) mm3/year no interocular difference (P = 0.20) strong (r2 0.88, P < 0.01). MMS -0.10 (1.25) dB/year. declined 4 improved 6 patients. subnormal despite within normal range.Serial measurements UWF-FAF-derived showed slow expansion. Total might be more sensitive measure than detecting progression.