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

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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.

Original language	English
Pages (from-to)	213-223
Number of pages	11
Journal	Retina-The Journal of Retinal and Vitreous Diseases
Volume	41
Issue number	1
DOIs	https://doi.org/10.1097/IAE.0000000000002808
Publication status	Published - 1 Jan 2021

Keywords

inherited retinal dystrophies
natural history
retinitis pigmentosa
rhodopsin
sector retinitis pigmentosa
Electroretinography
Follow-Up Studies
Humans
Middle Aged
Male
Acute-Phase Proteins/genetics
Visual Acuity
Visual Fields/physiology
Forecasting
Phenotype
Retinal Pigment Epithelium/pathology
Tomography, Optical Coherence/methods
Female
Aged
Retrospective Studies
Retinitis Pigmentosa/blood

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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-The Journal of Retinal and Vitreous Diseases, 41(1), 213-223. https://doi.org/10.1097/IAE.0000000000002808

@article{21395888548b4b648d217ee1a104bb29,

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.",

keywords = "inherited retinal dystrophies, natural history, retinitis pigmentosa, rhodopsin, sector retinitis pigmentosa, Electroretinography, Follow-Up Studies, Humans, Middle Aged, Male, Acute-Phase Proteins/genetics, Visual Acuity, Visual Fields/physiology, Forecasting, Phenotype, Retinal Pigment Epithelium/pathology, Tomography, Optical Coherence/methods, Female, Aged, Retrospective Studies, Retinitis Pigmentosa/blood",

author = "Nguyen, {Xuan Thanh An} 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-The Journal of Retinal and Vitreous Diseases",

issn = "0275-004X",

publisher = "Lippincott Williams & Wilkins",

number = "1",

}

Nguyen, XTA, 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-The Journal of Retinal and Vitreous Diseases, vol. 41, no. 1, pp. 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.

KW - inherited retinal dystrophies

KW - natural history

KW - retinitis pigmentosa

KW - rhodopsin

KW - sector retinitis pigmentosa

KW - Electroretinography

KW - Follow-Up Studies

KW - Humans

KW - Middle Aged

KW - Male

KW - Acute-Phase Proteins/genetics

KW - Visual Acuity

KW - Visual Fields/physiology

KW - Forecasting

KW - Phenotype

KW - Retinal Pigment Epithelium/pathology

KW - Tomography, Optical Coherence/methods

KW - Female

KW - Aged

KW - Retrospective Studies

KW - Retinitis Pigmentosa/blood

UR - http://www.scopus.com/inward/record.url?scp=85091447612&partnerID=8YFLogxK

U2 - 10.1097/IAE.0000000000002808

DO - 10.1097/IAE.0000000000002808

M3 - Article

C2 - 32301896

AN - SCOPUS:85091447612

SN - 0275-004X

VL - 41

SP - 213

EP - 223

JO - Retina-The Journal of Retinal and Vitreous Diseases

JF - Retina-The Journal of Retinal and Vitreous Diseases

IS - 1

ER -

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

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