
Clinical characteristics and natural history of rho-associated retinitis pigmentosa : a long-term follow-up study
- Author
- Xuan-Thanh-An Nguyen, Mays Talib, Caroline Van Cauwenbergh (UGent) , Mary J. van Schooneveld, Marta Fiocco, Jan Wijnholds, Jacoline B. ten Brink, Ralph J. Florijn, Nicoline E. Schalij-Delfos, Gislin Dagnelie, Maria M. van Genderen, Elfride De Baere (UGent) , Magda A. Meester-Smoor, Julie De Zaeytijd (UGent) , Irina Balikova (UGent) , Alberta A. Thiadens, Carel B. Hoyng, Caroline C. Klaver, L. Ingeborgh van den Born, Arthur A. Bergen, Bart Leroy (UGent) and Camiel J.F. Boon
- Organization
- 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 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.
- Keywords
- Ophthalmology, General Medicine, inherited retinal dystrophies, natural history, retinitis pigmentosa, rhodopsin, sector retinitis pigmentosa
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Please use this url to cite or link to this publication: http://hdl.handle.net/1854/LU-8667628
- MLA
- Nguyen, Xuan-Thanh-An, et al. “Clinical Characteristics and Natural History of Rho-Associated Retinitis Pigmentosa : A Long-Term Follow-up Study.” RETINA -THE JOURNAL OF RETINAL AND VITREOUS DISEASES, vol. 41, no. 1, 2021, pp. 213–23, doi:10.1097/iae.0000000000002808.
- APA
- Nguyen, X.-T.-A., Talib, M., Van Cauwenbergh, C., van Schooneveld, M. J., 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. RETINA -THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 41(1), 213–223. https://doi.org/10.1097/iae.0000000000002808
- Chicago author-date
- Nguyen, Xuan-Thanh-An, Mays Talib, Caroline Van Cauwenbergh, Mary J. van Schooneveld, Marta Fiocco, Jan Wijnholds, Jacoline B. ten Brink, et al. 2021. “Clinical Characteristics and Natural History of Rho-Associated Retinitis Pigmentosa : A Long-Term Follow-up Study.” RETINA -THE JOURNAL OF RETINAL AND VITREOUS DISEASES 41 (1): 213–23. https://doi.org/10.1097/iae.0000000000002808.
- Chicago author-date (all authors)
- Nguyen, Xuan-Thanh-An, Mays Talib, Caroline Van Cauwenbergh, Mary J. van Schooneveld, Marta Fiocco, Jan Wijnholds, Jacoline B. ten Brink, Ralph J. Florijn, Nicoline E. Schalij-Delfos, Gislin Dagnelie, Maria M. van Genderen, Elfride De Baere, Magda A. Meester-Smoor, Julie De Zaeytijd, Irina Balikova, Alberta A. Thiadens, Carel B. Hoyng, Caroline C. Klaver, L. Ingeborgh van den Born, Arthur A. Bergen, Bart Leroy, and Camiel J.F. Boon. 2021. “Clinical Characteristics and Natural History of Rho-Associated Retinitis Pigmentosa : A Long-Term Follow-up Study.” RETINA -THE JOURNAL OF RETINAL AND VITREOUS DISEASES 41 (1): 213–223. doi:10.1097/iae.0000000000002808.
- Vancouver
- 1.Nguyen X-T-A, Talib M, Van Cauwenbergh C, van Schooneveld MJ, Fiocco M, Wijnholds J, et al. Clinical characteristics and natural history of rho-associated retinitis pigmentosa : a long-term follow-up study. RETINA -THE JOURNAL OF RETINAL AND VITREOUS DISEASES. 2021;41(1):213–23.
- IEEE
- [1]X.-T.-A. Nguyen et al., “Clinical characteristics and natural history of rho-associated retinitis pigmentosa : a long-term follow-up study,” RETINA -THE JOURNAL OF RETINAL AND VITREOUS DISEASES, vol. 41, no. 1, pp. 213–223, 2021.
@article{8667628, 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 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.}}, author = {{Nguyen, Xuan-Thanh-An and Talib, Mays and Van Cauwenbergh, Caroline and van Schooneveld, Mary J. and Fiocco, Marta and Wijnholds, Jan and ten Brink, Jacoline B. and Florijn, Ralph J. and Schalij-Delfos, Nicoline E. and Dagnelie, Gislin and van Genderen, Maria M. and De Baere, Elfride and Meester-Smoor, Magda A. and De Zaeytijd, Julie and Balikova, Irina and Thiadens, Alberta A. and Hoyng, Carel B. and Klaver, Caroline C. and van den Born, L. Ingeborgh and Bergen, Arthur A. and Leroy, Bart and Boon, Camiel J.F.}}, issn = {{0275-004X}}, journal = {{RETINA -THE JOURNAL OF RETINAL AND VITREOUS DISEASES}}, keywords = {{Ophthalmology,General Medicine,inherited retinal dystrophies,natural history,retinitis pigmentosa,rhodopsin,sector retinitis pigmentosa}}, language = {{eng}}, number = {{1}}, pages = {{213--223}}, title = {{Clinical characteristics and natural history of rho-associated retinitis pigmentosa : a long-term follow-up study}}, url = {{http://doi.org/10.1097/iae.0000000000002808}}, volume = {{41}}, year = {{2021}}, }
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