CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study

XTA Nguyen, M Talib, C Van Cauwenbergh, MJ van Schooneveld, M Fiocco, J Wijnholds, JB Brink, RJ Florijn, NE Schalij-Delfos, G Dagnelie, MM van Genderen, E De Baere, Magda Smoor, J de Zaeytijd, I Balikova, Alberta Thiadens, CB Hoyng, Caroline Klaver, LI van den Born, A BergenBP Leroy, CJF Boon

Research output: Contribution to journalArticleAcademicpeer-review

17 Citations (Scopus)

Abstract

PURPOSE: To investigate the natural history of RHO-associated retinitis pigmentosa (RP). METHODS: A multicenter, medical chart review of 100 patients with autosomal dominant RHO-associated RP. RESULTS: Based on visual fields, time-to-event analysis revealed median ages of 52 and 79 years to reach low vision (central visual field <20°) and blindness (central visual field <10°), respectively. For the best-corrected visual acuity (BCVA), the median age to reach mild impairment (20/67 ≤ BCVA < 20/40) was 72 years, whereas this could not be computed for lower acuities. Disease progression was significantly faster in patients with a generalized RP phenotype (n = 75; 75%) than that in patients with a sector RP phenotype (n = 25; 25%), in terms of decline rates of the BCVA (P < 0.001) and V4e retinal seeing areas (P < 0.005). The foveal thickness of the photoreceptor-retinal pigment epithelium (PR + RPE) complex correlated significantly with BCVA (Spearman's ρ = 0.733; P < 0.001). CONCLUSION: Based on central visual fields, the optimal window of intervention for RHO-associated RP is before the 5th decade of life. Significant differences in disease progression are present between generalized and sector RP phenotypes. Our findings suggest that the PR + RPE complex is a potential surrogate endpoint for the BCVA in future studies.

Original languageEnglish
Pages (from-to)213-223
Number of pages11
JournalRetina (Philadelphia, Pa )
Volume41
Issue number1
DOIs
Publication statusPublished - 1 Jan 2021

Bibliographical note

Publisher Copyright:
Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the Opthalmic Communications Society, Inc.

Research programs

  • EMC OR-01

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