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

Ueno, Shinji and Koyanagi, Yoshito and Kominami, Taro and Ito, Yasuki and Kawano, Kenichi and Nishiguchi, Koji M. and Rivolta, Carlo and Nakazawa, Toru and Sonoda, Koh-Hei and Terasaki, Hiroko. (2020) Clinical characteristics and high resolution retinal imaging of retinitis pigmentosa caused by RP1 gene variants. Japanese Journal of Ophthalmology, 64 (5). pp. 485-496.

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Official URL: https://edoc.unibas.ch/79688/

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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.; Retrospective case series.; 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.; 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.; 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.
Faculties and Departments:03 Faculty of Medicine
09 Associated Institutions > Institute of Molecular and Clinical Ophthalmology Basel (IOB)
UniBasel Contributors:Rivolta, Carlo
Item Type:Article, refereed
Article Subtype:Research Article
Publisher:Springer Nature
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:06 Jul 2021 01:30
Deposited On:23 Dec 2020 10:06

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