CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study
Nguyen, Xuan Thanh An; Talib, Mays; van Cauwenbergh, Caroline; van Schooneveld, Mary J.; Fiocco, Marta; Wijnholds, Jan; Ten Brink, Jacoline B.; Florijn, Ralph J.; Schalij-Delfos, Nicoline E.; Dagnelie, Gislin; van Genderen, Maria M.; de Baere, Elfride; Meester-Smoor, Magda A.; De Zaeytijd, Julie; Balikova, Irina; Thiadens, Alberta A.; Hoyng, Carel B.; Klaver, Caroline C.; van den Born, L. Ingeborgh; Bergen, Arthur A.; Leroy, Bart P.; Boon, Camiel J.F.
(2021) Retina-The Journal of Retinal and Vitreous Diseases, volume 41, issue 1, pp. 213 - 223
(Article)
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
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(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.
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Keywords: inherited retinal dystrophies, natural history, retinitis pigmentosa, rhodopsin, sector retinitis pigmentosa, Electroretinography, Follow-Up Studies, Humans, Middle Aged, Male, Acute-Phase Proteins/genetics, Visual Acuity, Visual Fields/physiology, Forecasting, Phenotype, Retinal Pigment Epithelium/pathology, Tomography, Optical Coherence/methods, Female, Aged, Retrospective Studies, Retinitis Pigmentosa/blood, Ophthalmology, Multicenter Study, Journal Article
ISSN: 0275-004X
Publisher: Lippincott Williams and Wilkins
Note: Publisher Copyright: © 2021 Lippincott Williams and Wilkins. All rights reserved.
(Peer reviewed)