CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study. Issue 1 (January 2021)

• Record Type: Journal Article
• Authors: 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.
• Is Part Of: Retina. Volume 41:Issue 1(2021)
• Publication Date: 2021-01
• Subjects: inherited retinal dystrophies -- natural history -- retinitis pigmentosa -- rhodopsin -- sector retinitis pigmentosa; Retina -- Diseases -- Periodicals; Retinal Diseases; Vitreous Body; 617.735
• DOI: 10.1097/IAE.0000000000002808
• Languages: English
• ISSNs: 0275-004X

Abstract

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. Abstract : Supplemental Digital Content is Available in the Text.This study reports the natural history of autosomal dominant retinitis pigmentosa caused by RHO mutations in 100 patients from the Dutch and Belgian population. There are notable differences in progression rates between generalized and sector retinitis pigmentosa patients.