Xuan-Thanh-An Nguyen1, Mays Talib1, Caroline van Cauwenbergh2, Mary J van Schooneveld3, Marta Fiocco4,5, Jan Wijnholds1, Jacoline B Ten Brink6, Ralph J Florijn6, Nicoline E Schalij-Delfos1, Gislin Dagnelie7, Maria M van Genderen8,9, Elfride de Baere2, Magda A Meester-Smoor10, Julie De Zaeytijd2, Irina Balikova2, Alberta A Thiadens10, Carel B Hoyng11, Caroline C Klaver10,11,12, L Ingeborgh van den Born13, Arthur A Bergen6,14, Bart P Leroy2,15, Camiel J F Boon1,3. 1. Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands. 2. Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium. 3. Department of Ophthalmology, Amsterdam UMC, Academic Medical Center, Amsterdam, The Netherlands. 4. Institute of Mathematic Leiden University, Leiden, The Netherlands. 5. Department of Biomedical Data Sciences, Leiden University Medical Center, Leiden, The Netherlands. 6. Department of Clinical Genetics, Amsterdam UMC, Academic Medical Center, Amsterdam, The Netherlands. 7. Wilmer Eye Institute, Johns Hopkins University, Baltimore, Maryland. 8. Bartiméus, Diagnostic Centre for Complex Visual Disorders, Zeist, The Netherlands. 9. Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands. 10. Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands. 11. Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands. 12. Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands. 13. The Rotterdam Eye Hospital, Rotterdam, The Netherlands. 14. The Netherlands Institute for Neuroscience (NIN-KNAW), Amsterdam, The Netherlands; and. 15. Ophthalmic Genetics & Visual Electrophysiology, Division of Ophthalmology, the Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
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.
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.
Authors: Nina Kobal; Tjaša Krašovec; Maja Šuštar; Marija Volk; Borut Peterlin; Marko Hawlina; Ana Fakin Journal: Int J Mol Sci Date: 2021-02-21 Impact factor: 5.923