Leiden University Scholarly Publications

Persistent URL of this record https://hdl.handle.net/1887/3213080

In Collections

This item can be found in the following collections:

Nguyen, X.T.A.; Talib, M.; Cauwenbergh, C. van; Schooneveld, M.J. van; Fiocco, M.; Wijnholds, J.; ... ; Boon, C.J.F. (2021)

Clinical characteristics and natural history of RHO-associated retinitis pigmentosa: a long-term follow-up study

Article / Letter to editor
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 degrees) and blindness (central visual field <10 degrees), 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 rho = 0.733; P <...Show morePurpose: 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 degrees) and blindness (central visual field <10 degrees), 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 rho = 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.Show less
inherited retinal dystrophies
natural history
retinitis pigmentosa
rhodopsin
sector retinitis pigmentosa
All authors
Nguyen, X.T.A.; Talib, M.; Cauwenbergh, C. van; Schooneveld, M.J. van; Fiocco, M.; Wijnholds, J.; Brink, J.B. ten; Florijn, R.J.; Schalij-Delfos, N.E.; Dagnelie, G.; Genderen, M.M. van; Baere, E. de; Meester-Smoor, M.A.; Zaeytijd, J. de; Balikova, I.; Thiadens, A.A.; Hoyng, C.B.; Klaver, C.C.; Born, L.I. van den; Bergen, A.A.; Leroy, B.P.; Boon, C.J.F.
Date
2021-01-01
Journal
RETINA, The Journal of Retinal and Vitreous Diseases
Volume
41
Issue
1
Pages
213 - 223
DOI
doi:10.1097/IAE.0000000000002808
Link
https://journals.lww.com/retinajournal/Fulltext/2021/01000/CLINICAL_CHAR...