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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.

Titel:	CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study.
Autor/in / Beteiligte Person:	Nguyen, XT ; Talib, M ; van Cauwenbergh C ; van Schooneveld MJ ; Fiocco, M ; Wijnholds, J ; Ten Brink, JB ; Florijn, RJ ; Schalij-Delfos, NE ; Dagnelie, G ; van Genderen MM ; de Baere E ; Meester-Smoor, MA ; De Zaeytijd, J ; Balikova, I ; Thiadens, AA ; Hoyng, CB ; Klaver, CC ; van den Born LI ; Bergen, AA ; Leroy, BP ; Boon, CJF
Zeitschrift:	Retina (Philadelphia, Pa.), Jg. 41 (2021), Heft 1, S. 213-223
Veröffentlichung:	Hagerstown, MD : Lippincott Williams & Wilkins ; <i>Original Publication</i>: Philadelphia : Lippincott, [1981?-, 2021
Medientyp:	academicJournal
ISSN:	1539-2864 (electronic)
DOI:	10.1097/IAE.0000000000002808
Schlagwort:	Acute-Phase Proteins metabolism Aged Electroretinography Female Follow-Up Studies Humans Male Middle Aged Phenotype Retinitis Pigmentosa blood Retinitis Pigmentosa genetics Retrospective Studies Tomography, Optical Coherence methods Acute-Phase Proteins genetics Forecasting Retinal Pigment Epithelium pathology Retinitis Pigmentosa diagnosis Visual Acuity Visual Fields physiology
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Journal Article; Multicenter Study Language: English [Retina] 2021 Jan 01; Vol. 41 (1), pp. 213-223. MeSH Terms: Forecasting* ; Visual Acuity* ; Acute-Phase Proteins / genetics ; Retinal Pigment Epithelium / pathology ; Retinitis Pigmentosa / diagnosis ; Visual Fields / physiology ; Acute-Phase Proteins / metabolism ; Aged ; Electroretinography ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Phenotype ; Retinitis Pigmentosa / blood ; Retinitis Pigmentosa / genetics ; Retrospective Studies ; Tomography, Optical Coherence / methods References: Dryja TP, Hahn LB, Cowley GS, et al. Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc Natl Acad Sci U S A 1991;88:9370–9374. ; Verbakel SK, van Huet RAC, Boon CJF, et al. Non-syndromic retinitis pigmentosa. Prog Retin Eye Res 2018;66:157–186. ; Zeitz C, Gross AK, Leifert D, et al. 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CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study.