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Clinical Characteristics and Natural History of RHO-Associated RP

A Long-Term Follow-Up Study

Nguyen, Xuan-Thanh-An MD | Talib, Mays MD | van Cauwenbergh, Caroline PhD; van Schooneveld, Mary J. MD, PhD | Fiocco, Marta PhD; Wijnholds, Jan PhD | ten Brink, Jacoline B. BAS | Florijn, Ralph J. PhD | Schalij-Delfos, Nicoline E. MD, PhD | Dagnelie, Gislin PhD | van Genderen, Maria M. MD, PhD | de Baere, Elfride MD, PhD†; Meester-Smoor, Magda A. PhD | De Zaeytijd, Julie MD | Balikova, Irina MD, PhD | Thiadens, Alberta A. MD, PhD | Hoyng, Carel B. MD, PhD | Klaver, Caroline C. MD, PhD | van den Born, L. Ingeborgh MD, PhD | Bergen, Arthur A. PhD | Leroy, Bart P. MD, PhD | Boon, Camiel J.F. MD, PhD

Retina 41(1) | p 213-223 | January 2021 | DOI: 10.1097/IAE.0000000000002808


To investigate the natural history of RHO-associated retinitis pigmentosa (RP).


A multi-center, medical chart review of 100 patients with autosomal dominant RHO-associated RP.


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).


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.


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


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