TY - JOUR
T1 - CLINICAL and GENETIC CHARACTERISTICS of MALE PATIENTS with RPGR-ASSOCIATED RETINAL DYSTROPHIES
T2 - 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.
N1 - Publisher Copyright:
© 2019 Ophthalmic Communications Society, Inc.
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.
KW - cone-rod dystrophy
KW - inherited retinal dystrophy
KW - natural history
KW - phenotype
KW - progression rate
KW - retinitis pigmentosa
UR - https://www.scopus.com/pages/publications/85066848497
U2 - 10.1097/IAE.0000000000002125
DO - 10.1097/IAE.0000000000002125
M3 - Article
C2 - 29528978
AN - SCOPUS:85066848497
SN - 1539-2864
VL - 39
SP - 1186
EP - 1189
JO - Retina (Philadelphia, Pa.)
JF - Retina (Philadelphia, Pa.)
IS - 6
ER -