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
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.
UR - https://www.mendeley.com/catalogue/d0a4c9f5-8ab7-3a27-969b-930d4a7e0bab/
U2 - 10.1097/IAE.0000000000002808
DO - 10.1097/IAE.0000000000002808
M3 - Article
C2 - 32301896
SN - 0275-004X
VL - 41
SP - 213
EP - 223
JO - Retina
JF - Retina
IS - 1
ER -