CLINICAL and GENETIC CHARACTERISTICS of MALE PATIENTS with RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study

Mays Talib, Mary J. van Schooneveld, Alberta A. Thiadens, Marta Fiocco, Jan Wijnholds, Ralph J. Florijn, Nicoline E. Schalij-Delfos, Maria M. van Genderen, Hein Putter, Frans P. M. Cremers, Gislin Dagnelie, Jacoline B. ten Brink, Caroline C. W. Klaver, L. Ingeborgh van den Born, Carel B. Hoyng, Arthur A. Bergen, Camiel J. F. Boon

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Purpose:To describe the phenotype and clinical course of patients with RPGR-associated retinal dystrophies, and to identify genotype-phenotype correlations.Methods:A multicenter medical records review of 74 male patients with RPGR-associated retinal dystrophies.Results:Patients had retinitis pigmentosa (RP; n = 52; 70%), cone dystrophy (COD; n = 5; 7%), or cone-rod dystrophy (CORD; n = 17; 23%). The median follow-up time was 11.6 years (range 0-57.1). The median age at symptom onset was 5.0 years (range 0-14 years) for patients with RP and 23.0 years (range 0-60 years) for patients with COD/CORD. The probability of being blind (best-corrected visual acuity <0.05) at the age of 40 was 20% and 55% in patients with RP and COD/CORD, respectively. RPGR-ORF15 mutations were associated with high myopia (P = 0.01), which led to a faster best-corrected visual acuity decline in patients with RP (P < 0.001) and COD/CORD (P = 0.03). Patients with RP with RPGR-ORF15 mutations had a faster visual field decline (P = 0.01) and thinner central retina (P = 0.03) than patients with mutations in exon 1 to 14.Conclusion:Based on best-corrected visual acuity survival probabilities, the intervention window for gene therapy for RPGR-associated retinal dystrophies is relatively broad in patients with RP. RPGR-ORF15 mutations were associated with COD/CORD and with a more severe phenotype in RP. High myopia is a risk factor for faster best-corrected visual acuity decline.
Original languageEnglish
Pages (from-to)1186-1189
JournalRetina (Philadelphia, Pa.)
Volume39
Issue number6
DOIs
Publication statusPublished - 1 Jun 2019
Externally publishedYes

Cite this

Talib, Mays ; van Schooneveld, Mary J. ; Thiadens, Alberta A. ; Fiocco, Marta ; Wijnholds, Jan ; Florijn, Ralph J. ; Schalij-Delfos, Nicoline E. ; van Genderen, Maria M. ; Putter, Hein ; Cremers, Frans P. M. ; Dagnelie, Gislin ; ten Brink, Jacoline B. ; Klaver, Caroline C. W. ; van den Born, L. Ingeborgh ; Hoyng, Carel B. ; Bergen, Arthur A. ; Boon, Camiel J. F. / CLINICAL and GENETIC CHARACTERISTICS of MALE PATIENTS with RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study. In: Retina (Philadelphia, Pa.). 2019 ; Vol. 39, No. 6. pp. 1186-1189.
@article{a48305006bc5449baf5fee070b50dc55,
title = "CLINICAL and GENETIC CHARACTERISTICS of MALE PATIENTS with RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study",
abstract = "Purpose:To describe the phenotype and clinical course of patients with RPGR-associated retinal dystrophies, and to identify genotype-phenotype correlations.Methods:A multicenter medical records review of 74 male patients with RPGR-associated retinal dystrophies.Results:Patients had retinitis pigmentosa (RP; n = 52; 70{\%}), cone dystrophy (COD; n = 5; 7{\%}), or cone-rod dystrophy (CORD; n = 17; 23{\%}). The median follow-up time was 11.6 years (range 0-57.1). The median age at symptom onset was 5.0 years (range 0-14 years) for patients with RP and 23.0 years (range 0-60 years) for patients with COD/CORD. The probability of being blind (best-corrected visual acuity <0.05) at the age of 40 was 20{\%} and 55{\%} in patients with RP and COD/CORD, respectively. RPGR-ORF15 mutations were associated with high myopia (P = 0.01), which led to a faster best-corrected visual acuity decline in patients with RP (P < 0.001) and COD/CORD (P = 0.03). Patients with RP with RPGR-ORF15 mutations had a faster visual field decline (P = 0.01) and thinner central retina (P = 0.03) than patients with mutations in exon 1 to 14.Conclusion:Based on best-corrected visual acuity survival probabilities, the intervention window for gene therapy for RPGR-associated retinal dystrophies is relatively broad in patients with RP. RPGR-ORF15 mutations were associated with COD/CORD and with a more severe phenotype in RP. High myopia is a risk factor for faster best-corrected visual acuity decline.",
author = "Mays Talib and {van Schooneveld}, {Mary J.} and Thiadens, {Alberta A.} and Marta Fiocco and Jan Wijnholds and Florijn, {Ralph J.} and Schalij-Delfos, {Nicoline E.} and {van Genderen}, {Maria M.} and Hein Putter and Cremers, {Frans P. M.} and Gislin Dagnelie and {ten Brink}, {Jacoline B.} and Klaver, {Caroline C. W.} and {van den Born}, {L. Ingeborgh} and Hoyng, {Carel B.} and Bergen, {Arthur A.} and Boon, {Camiel J. F.}",
year = "2019",
month = "6",
day = "1",
doi = "10.1097/IAE.0000000000002125",
language = "English",
volume = "39",
pages = "1186--1189",
journal = "Retina (Philadelphia, Pa.)",
issn = "0275-004X",
number = "6",

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Talib, M, van Schooneveld, MJ, Thiadens, AA, Fiocco, M, Wijnholds, J, Florijn, RJ, Schalij-Delfos, NE, van Genderen, MM, Putter, H, Cremers, FPM, Dagnelie, G, ten Brink, JB, Klaver, CCW, van den Born, LI, Hoyng, CB, Bergen, AA & Boon, CJF 2019, 'CLINICAL and GENETIC CHARACTERISTICS of MALE PATIENTS with RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study' Retina (Philadelphia, Pa.), vol. 39, no. 6, pp. 1186-1189. https://doi.org/10.1097/IAE.0000000000002125

CLINICAL and GENETIC CHARACTERISTICS of MALE PATIENTS with RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study. / Talib, Mays; van Schooneveld, Mary J.; Thiadens, Alberta A.; Fiocco, Marta; Wijnholds, Jan; Florijn, Ralph J.; Schalij-Delfos, Nicoline E.; van Genderen, Maria M.; Putter, Hein; Cremers, Frans P. M.; Dagnelie, Gislin; ten Brink, Jacoline B.; Klaver, Caroline C. W.; van den Born, L. Ingeborgh; Hoyng, Carel B.; Bergen, Arthur A.; Boon, Camiel J. F.

In: Retina (Philadelphia, Pa.), Vol. 39, No. 6, 01.06.2019, p. 1186-1189.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - CLINICAL and GENETIC CHARACTERISTICS of MALE PATIENTS with RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study

AU - Talib, Mays

AU - van Schooneveld, Mary J.

AU - Thiadens, Alberta A.

AU - Fiocco, Marta

AU - Wijnholds, Jan

AU - Florijn, Ralph J.

AU - Schalij-Delfos, Nicoline E.

AU - van Genderen, Maria M.

AU - Putter, Hein

AU - Cremers, Frans P. M.

AU - Dagnelie, Gislin

AU - ten Brink, Jacoline B.

AU - Klaver, Caroline C. W.

AU - van den Born, L. Ingeborgh

AU - Hoyng, Carel B.

AU - Bergen, Arthur A.

AU - Boon, Camiel J. F.

PY - 2019/6/1

Y1 - 2019/6/1

N2 - Purpose:To describe the phenotype and clinical course of patients with RPGR-associated retinal dystrophies, and to identify genotype-phenotype correlations.Methods:A multicenter medical records review of 74 male patients with RPGR-associated retinal dystrophies.Results:Patients had retinitis pigmentosa (RP; n = 52; 70%), cone dystrophy (COD; n = 5; 7%), or cone-rod dystrophy (CORD; n = 17; 23%). The median follow-up time was 11.6 years (range 0-57.1). The median age at symptom onset was 5.0 years (range 0-14 years) for patients with RP and 23.0 years (range 0-60 years) for patients with COD/CORD. The probability of being blind (best-corrected visual acuity <0.05) at the age of 40 was 20% and 55% in patients with RP and COD/CORD, respectively. RPGR-ORF15 mutations were associated with high myopia (P = 0.01), which led to a faster best-corrected visual acuity decline in patients with RP (P < 0.001) and COD/CORD (P = 0.03). Patients with RP with RPGR-ORF15 mutations had a faster visual field decline (P = 0.01) and thinner central retina (P = 0.03) than patients with mutations in exon 1 to 14.Conclusion:Based on best-corrected visual acuity survival probabilities, the intervention window for gene therapy for RPGR-associated retinal dystrophies is relatively broad in patients with RP. RPGR-ORF15 mutations were associated with COD/CORD and with a more severe phenotype in RP. High myopia is a risk factor for faster best-corrected visual acuity decline.

AB - Purpose:To describe the phenotype and clinical course of patients with RPGR-associated retinal dystrophies, and to identify genotype-phenotype correlations.Methods:A multicenter medical records review of 74 male patients with RPGR-associated retinal dystrophies.Results:Patients had retinitis pigmentosa (RP; n = 52; 70%), cone dystrophy (COD; n = 5; 7%), or cone-rod dystrophy (CORD; n = 17; 23%). The median follow-up time was 11.6 years (range 0-57.1). The median age at symptom onset was 5.0 years (range 0-14 years) for patients with RP and 23.0 years (range 0-60 years) for patients with COD/CORD. The probability of being blind (best-corrected visual acuity <0.05) at the age of 40 was 20% and 55% in patients with RP and COD/CORD, respectively. RPGR-ORF15 mutations were associated with high myopia (P = 0.01), which led to a faster best-corrected visual acuity decline in patients with RP (P < 0.001) and COD/CORD (P = 0.03). Patients with RP with RPGR-ORF15 mutations had a faster visual field decline (P = 0.01) and thinner central retina (P = 0.03) than patients with mutations in exon 1 to 14.Conclusion:Based on best-corrected visual acuity survival probabilities, the intervention window for gene therapy for RPGR-associated retinal dystrophies is relatively broad in patients with RP. RPGR-ORF15 mutations were associated with COD/CORD and with a more severe phenotype in RP. High myopia is a risk factor for faster best-corrected visual acuity decline.

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UR - https://www.ncbi.nlm.nih.gov/pubmed/29528978

U2 - 10.1097/IAE.0000000000002125

DO - 10.1097/IAE.0000000000002125

M3 - Article

VL - 39

SP - 1186

EP - 1189

JO - Retina (Philadelphia, Pa.)

JF - Retina (Philadelphia, Pa.)

SN - 0275-004X

IS - 6

ER -