Clinical characteristics and natural history of rho-associated retinitis pigmentosa. A Long-Term Follow-Up Study

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

Research output: Contribution to journal/periodicalArticleScientificpeer-review

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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
Publication statusPublished - 2021


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