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The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene

Mays Talib, Mary J van Schooneveld, Caroline Van Cauwenbergh (UGent) , Jan Wijnholds, Jacoline B. ten Brink, Ralph J. Florijn, Nicoline E. Schalij-Delfos, Gislin Dagnelie, Maria M. van Genderen, Elfride De Baere (UGent) , et al.
(2018) INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 59(10). p.4123-4133
Author
Organization
Abstract
PURPOSE. The purpose of this study was to investigate the phenotype and long-term clinical course of female carriers of RPGR mutations. METHODS. This was a retrospective cohort study of 125 heterozygous RPGR mutation carriers from 49 families. RESULTS. Eighty-three heterozygotes were from retinitis pigmentosa (RP) pedigrees, 37 were from cone-/cone-rod dystrophy (COD/CORD) pedigrees, and 5 heterozygotes were from pedigrees with mixed RP/CORD or unknown diagnosis. Mutations were located in exon 1-14 and in ORF15 in 42 of 125 (34%) and 83 of 125 (66%) subjects, respectively. The mean age at the first examination was 34.4 years (range, 2.1 to 86.0 years). The median follow-up time in heterozygotes with longitudinal data (n = 62) was 12.2 years (range, 1.1 to 52.2 years). Retinal pigmentary changes were present in 73 (58%) individuals. Visual symptoms were reported in 51 (40%) cases. Subjects with both symptoms and pigmentary fundus changes were older than the other heterozygotes (P = 0.01) and had thinner foveal outer retinas (P = 0.006). Complete expression of the RP or CORD phenotype was observed in 29 (23%) heterozygotes, although usually in milder forms than in affected male relatives. Best-corrected visual acuity (BCVA) was < 20/40 and < 20/400 in at least one eye in 45 of 116 (39%) and 11 of 116 (9%) heterozygotes, respectively. Myopia was observed in 74 of 101 (73%) subjects and was associated with lower BCVA (P = 0.006). Increasing age was associated with lower BCVA (P = 0.002) and decreasing visual field size (P = 0.012; I4e isopter). CONCLUSIONS. RPGR mutations lead to a phenotypic spectrum in female carriers, with myopia as a significantly aggravating factor. Complete disease expression is observed in some individuals, who may benefit from future (gene) therapeutic options.
Keywords
retinitis pigmentosa GTPase regulator, retinitis pigmentosa, gene therapy, disease progression, LINKED RETINITIS-PIGMENTOSA, X-CHROMOSOME INACTIVATION, PROGRESSIVE CONE, VISUAL FUNCTION, RETINAL DYSTROPHIES, EXON ORF15, MUTATIONS, FAMILIES, DOMINANT, PHENOTYPE

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MLA
Talib, Mays, et al. “The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene.” INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, vol. 59, no. 10, 2018, pp. 4123–33, doi:10.1167/iovs.17-23453.
APA
Talib, M., van Schooneveld, M. J., Van Cauwenbergh, C., Wijnholds, J., ten Brink, J. B., Florijn, R. J., … Boon, C. J. F. (2018). The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 59(10), 4123–4133. https://doi.org/10.1167/iovs.17-23453
Chicago author-date
Talib, Mays, Mary J van Schooneveld, Caroline Van Cauwenbergh, Jan Wijnholds, Jacoline B. ten Brink, Ralph J. Florijn, Nicoline E. Schalij-Delfos, et al. 2018. “The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene.” INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 59 (10): 4123–33. https://doi.org/10.1167/iovs.17-23453.
Chicago author-date (all authors)
Talib, Mays, Mary J van Schooneveld, Caroline Van Cauwenbergh, 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, Frans P. M. Cremers, L. Ingeborgh van den Born, Alberta A. Thiadens, Carel B. Hoyng, Caroline C. Klaver, Bart Leroy, Arthur A. Bergen, and Camiel J. F. Boon. 2018. “The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene.” INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 59 (10): 4123–4133. doi:10.1167/iovs.17-23453.
Vancouver
1.
Talib M, van Schooneveld MJ, Van Cauwenbergh C, Wijnholds J, ten Brink JB, Florijn RJ, et al. The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 2018;59(10):4123–33.
IEEE
[1]
M. Talib et al., “The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene,” INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, vol. 59, no. 10, pp. 4123–4133, 2018.
@article{8579155,
  abstract     = {{PURPOSE. The purpose of this study was to investigate the phenotype and long-term clinical course of female carriers of RPGR mutations. 
METHODS. This was a retrospective cohort study of 125 heterozygous RPGR mutation carriers from 49 families. 
RESULTS. Eighty-three heterozygotes were from retinitis pigmentosa (RP) pedigrees, 37 were from cone-/cone-rod dystrophy (COD/CORD) pedigrees, and 5 heterozygotes were from pedigrees with mixed RP/CORD or unknown diagnosis. Mutations were located in exon 1-14 and in ORF15 in 42 of 125 (34%) and 83 of 125 (66%) subjects, respectively. The mean age at the first examination was 34.4 years (range, 2.1 to 86.0 years). The median follow-up time in heterozygotes with longitudinal data (n = 62) was 12.2 years (range, 1.1 to 52.2 years). Retinal pigmentary changes were present in 73 (58%) individuals. Visual symptoms were reported in 51 (40%) cases. Subjects with both symptoms and pigmentary fundus changes were older than the other heterozygotes (P = 0.01) and had thinner foveal outer retinas (P = 0.006). Complete expression of the RP or CORD phenotype was observed in 29 (23%) heterozygotes, although usually in milder forms than in affected male relatives. Best-corrected visual acuity (BCVA) was < 20/40 and < 20/400 in at least one eye in 45 of 116 (39%) and 11 of 116 (9%) heterozygotes, respectively. Myopia was observed in 74 of 101 (73%) subjects and was associated with lower BCVA (P = 0.006). Increasing age was associated with lower BCVA (P = 0.002) and decreasing visual field size (P = 0.012; I4e isopter). 
CONCLUSIONS. RPGR mutations lead to a phenotypic spectrum in female carriers, with myopia as a significantly aggravating factor. Complete disease expression is observed in some individuals, who may benefit from future (gene) therapeutic options.}},
  author       = {{Talib, Mays and van Schooneveld, Mary J and Van Cauwenbergh, Caroline 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 Cremers, Frans P. M. and van den Born, L. Ingeborgh and Thiadens, Alberta A. and Hoyng, Carel B. and Klaver, Caroline C. and Leroy, Bart and Bergen, Arthur A. and Boon, Camiel J. F.}},
  issn         = {{0146-0404}},
  journal      = {{INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE}},
  keywords     = {{retinitis pigmentosa GTPase regulator,retinitis pigmentosa,gene therapy,disease progression,LINKED RETINITIS-PIGMENTOSA,X-CHROMOSOME INACTIVATION,PROGRESSIVE CONE,VISUAL FUNCTION,RETINAL DYSTROPHIES,EXON ORF15,MUTATIONS,FAMILIES,DOMINANT,PHENOTYPE}},
  language     = {{eng}},
  number       = {{10}},
  pages        = {{4123--4133}},
  title        = {{The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene}},
  url          = {{http://doi.org/10.1167/iovs.17-23453}},
  volume       = {{59}},
  year         = {{2018}},
}
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