TY - JOUR
T1 - CLINICAL CHARACTERISTICS and NATURAL HISTORY of RHO-ASSOCIATED RETINITIS PIGMENTOSA
T2 - A Long-Term Follow-Up Study
AU - Nguyen, Xuan Thanh An
AU - Talib, Mays
AU - Van Cauwenbergh, Caroline
AU - Van Schooneveld, Mary J.
AU - Fiocco, Marta
AU - Wijnholds, Jan
AU - Ten Brink, Jacoline B.
AU - Florijn, Ralph J.
AU - Schalij-Delfos, Nicoline E.
AU - Dagnelie, Gislin
AU - Van Genderen, Maria M.
AU - De Baere, Elfride
AU - Meester-Smoor, Magda A.
AU - De Zaeytijd, Julie
AU - Balikova, Irina
AU - Thiadens, Alberta A.
AU - Hoyng, Carel B.
AU - Klaver, Caroline C.
AU - Van Den Born, L. Ingeborgh
AU - Bergen, Arthur A.
AU - Leroy, Bart P.
AU - Boon, Camiel J.F.
N1 - Funding Information:
ERN-EYE is cofunded by the Health Program of the European Union under the Framework Partnership Agreement #739543—“ERN-EYE” and cofunded by the Hôpitaux Universitaires de Strasbourg.
Publisher Copyright:
© 2021 Lippincott Williams and Wilkins. All rights reserved.
PY - 2021/1/1
Y1 - 2021/1/1
N2 - 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.
AB - 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.
KW - inherited retinal dystrophies
KW - natural history
KW - retinitis pigmentosa
KW - rhodopsin
KW - sector retinitis pigmentosa
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U2 - 10.1097/IAE.0000000000002808
DO - 10.1097/IAE.0000000000002808
M3 - Article
C2 - 32301896
AN - SCOPUS:85091447612
SN - 0275-004X
VL - 41
SP - 213
EP - 223
JO - Retina
JF - Retina
IS - 1
ER -