CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study

Xuan-Thanh-An Nguyen; 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 P Leroy; Camiel J F Boon

doi:10.1097/IAE.0000000000002808

CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study

Xuan-Thanh-An Nguyen, 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 BergenBart P Leroy, Camiel J F Boon

Medical retina and Uveitis

Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel › Onderzoek › peer review

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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.

Originele taal-2	Engels
Pagina's (van-tot)	213-223
Aantal pagina's	11
Tijdschrift	Retina
Volume	41
Nummer van het tijdschrift	1
Vroegere onlinedatum	15 apr. 2020
DOI's	https://doi.org/10.1097/IAE.0000000000002808
Status	Gepubliceerd - 1 jan. 2021

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Nguyen, X.-T.-A., Talib, M., van Cauwenbergh, C., van Schooneveld, M. J., Fiocco, M., Wijnholds, J., Ten Brink, J. B., Florijn, R. J., Schalij-Delfos, N. E., Dagnelie, G., van Genderen, M. M., de Baere, E., Meester-Smoor, M. A., De Zaeytijd, J., Balikova, I., Thiadens, A. A., Hoyng, C. B., Klaver, C. C., van den Born, L. I., ... Boon, C. J. F. (2021). CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study. Retina, 41(1), 213-223. https://doi.org/10.1097/IAE.0000000000002808

@article{b1c60a2f0dd44ca98cf8f00c725a2933,

title = "CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study",

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.",

author = "Xuan-Thanh-An Nguyen and Mays Talib and \{van Cauwenbergh\}, Caroline and \{van Schooneveld\}, \{Mary J\} and Marta Fiocco and Jan Wijnholds and \{Ten Brink\}, \{Jacoline B\} and Florijn, \{Ralph J\} and Schalij-Delfos, \{Nicoline E\} and Gislin Dagnelie and \{van Genderen\}, \{Maria M\} and \{de Baere\}, Elfride and Meester-Smoor, \{Magda A\} and \{De Zaeytijd\}, Julie and Irina Balikova 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 P\} and Boon, \{Camiel J F\}",

year = "2021",

month = jan,

day = "1",

doi = "10.1097/IAE.0000000000002808",

language = "English",

volume = "41",

pages = "213--223",

journal = "Retina",

issn = "0275-004X",

publisher = "Lippincott Williams and Wilkins",

number = "1",

}

Nguyen, X-T-A, Talib, M, van Cauwenbergh, C, van Schooneveld, MJ, Fiocco, M, Wijnholds, J, Ten Brink, JB, Florijn, RJ, Schalij-Delfos, NE, Dagnelie, G, van Genderen, MM, de Baere, E, Meester-Smoor, MA, De Zaeytijd, J, Balikova, I, Thiadens, AA, Hoyng, CB, Klaver, CC, van den Born, LI, Bergen, AA, Leroy, BP & Boon, CJF 2021, 'CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study', Retina, vol. 41, nr. 1, blz. 213-223. https://doi.org/10.1097/IAE.0000000000002808

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 -

CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study

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