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Open AccessArticle

X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers

1
Department of Ophthalmology, Hamamatsu University School of Medicine, 1-20-1, Handayama, Higashi-ku, Hamamatsu, Shizuoka 431-3192, Japan
2
Department of Ophthalmology, The Jikei University School of Medicine, 3-19-18, Nishi-shimbashi, Minato-ku, Tokyo 105-8471, Japan
3
Department of Ophthalmology and Laboratory for Visual Science, National Center for Child Health and Development, 2-10-1, Okura, Setagaya-ku, Tokyo 157-8535, Japan
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2019, 20(6), 1518; https://doi.org/10.3390/ijms20061518
Received: 7 March 2019 / Revised: 23 March 2019 / Accepted: 25 March 2019 / Published: 26 March 2019
X-linked retinitis pigmentosa (XLRP) is a type of severe retinal dystrophy, and female carriers of XLRP demonstrate markedly variable clinical severity. In this study, we aimed to elucidate the clinical findings of male patients with and female carriers of XLRP in a Japanese cohort and demonstrate the genetic contribution. Twelve unrelated families (13 male patients, 15 female carriers) harboring pathogenic mutations in RPGR or RP2 were included, and comprehensive ophthalmic examinations were performed. To identify potential pathogenic mutations, targeted next-generation sequencing was employed. Consequently, we identified 11 pathogenic mutations, of which five were novel. Six and five mutations were detected in RPGR and RP2, respectively. Only one mutation was detected in ORF15. Affected male patients with RP2 mutations tended to have lower visual function than those with RPGR mutations. Female carriers demonstrated varying visual acuities and visual fields. Among the female carriers, 92% had electroretinographical abnormalities and 63% had a radial autofluorescent pattern, and the carriers who had higher myopia showed worse visual acuity and more severe retinal degeneration. Our results expand the knowledge of the clinical phenotypes of male patients with and female carriers of XLRP and suggest the possibility that RP2 mutations are relatively highly prevalent in Japan. View Full-Text
Keywords: retinitis pigmentosa; X-linked inheritance; RPGR; RP2; visual function; genetic findings retinitis pigmentosa; X-linked inheritance; RPGR; RP2; visual function; genetic findings
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Kurata, K.; Hosono, K.; Hayashi, T.; Mizobuchi, K.; Katagiri, S.; Miyamichi, D.; Nishina, S.; Sato, M.; Azuma, N.; Nakano, T.; Hotta, Y. X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers. Int. J. Mol. Sci. 2019, 20, 1518.

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