Clinical characteristics and high resolution retinal imaging of retinitis pigmentosa caused by RP1 gene variants

Shinji Ueno, Yoshito Koyanagi, Taro Kominami, Yasuki Ito, Kenichi Kawano, Koji M. Nishiguchi, Carlo Rivolta, Toru Nakazawa, Koh Hei Sonoda, Hiroko Terasaki

研究成果: Contribution to journalArticle査読

1 被引用数 (Scopus)

抄録

Purpose: To report the clinical course and high resolution images of autosomal recessive retinitis pigmentosa (RP) associated with a variant of the RP1 gene (c.4052_4053ins328/p.Tyr1352Alafs*9; m1), a high frequency founder variant in Japanese RP patients. Study design: Retrospective case series. Methods: Nine patients from 5 unrelated Japanese families were studied. Five patients had the m1 variant homozygously, and 4 patients had the m1 variant compound heterozygously with another frameshift variant (c.4196delG/p.Cys1399Leufs*5). Ophthalmic examinations including adaptive optics (AO) fundus imaging were performed periodically. Results: The fundus photographs, fundus autofluorescence (FAF) images, and optical coherence tomographic (OCT) images indicated severe retinal degeneration in all the patients involving the macula even at a young age (20 s). The areas of surviving photoreceptors in the central macula were seen as hyper-autofluorescent regions in the FAF images and preserved outer retinal structure in the OCT images; they were identifiable in the AO fundus images in 8 eyes. The borders of the surviving photoreceptor areas were surrounded by hyporeflective clumps, presumably containing melanin, and the size of these areas decreased progressively during the 4-year follow-up period. The disappearance of the surviving photoreceptor areas was associated with complete blindness. Conclusion: Patients with RP associated with the m1 variant have a progressive and severe retinal degeneration that begins at an early age. Monitoring the surviving photoreceptor areas by AO fundus imaging can provide a more precise pathological record of retinal degeneration.

本文言語英語
ページ(範囲)485-496
ページ数12
ジャーナルJapanese Journal of Ophthalmology
64
5
DOI
出版ステータス出版済み - 9 1 2020

All Science Journal Classification (ASJC) codes

  • Ophthalmology

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