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 journalArticlepeer-review

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 (US)
Pages (from-to)213-223
Number of pages11
JournalRetina (Philadelphia, Pa.)
Volume41
Issue number1
DOIs
StatePublished - Jan 1 2021

ASJC Scopus subject areas

  • Ophthalmology

Fingerprint

Dive into the research topics of 'CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study'. Together they form a unique fingerprint.

Cite this