Clinical characteristics and high resolution retinal imaging of retinitis pigmentosa caused by RP1 gene variants
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CLINICAL INVESTIGATION
Clinical characteristics and high resolution retinal imaging of retinitis pigmentosa caused by RP1 gene variants Shinji Ueno1 · Yoshito Koyanagi1,2 · Taro Kominami1 · Yasuki Ito1 · Kenichi Kawano1 · Koji M. Nishiguchi3 · Carlo Rivolta4,5,6 · Toru Nakazawa3 · Koh‑Hei Sonoda2 · Hiroko Terasaki1 Received: 11 January 2020 / Accepted: 14 May 2020 © Japanese Ophthalmological Society 2020
Abstract 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. Keywords Autosomal recessive retinitis pigmentosa · RP1 · Adaptive optics images · Fundus autofluorescence
Corresponding Author: Shinji Ueno * Shinji Ueno [email protected]‑u.ac.jp 1
Department of Ophthalmology, Nagoya University Graduate School of Medicine, 65 Tsuruma‑cho, Showa‑ku, Nagoya 466‑8550, Japan
2
Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
3
Department of Ophthalmology, Tohoku University Graduate School of Medicine, Sendai, Japan
4
Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland
5
University of Basel, Basel, Switzerland
6
Department of Genetics and Genome Biology, University of Leicester, Leicester, UK
Introduction Retinitis pigmentosa (RP) denotes a heterogeneous group of retinal disorders characterized by the progressive degeneration of both the rod and cone photoreceptors bilaterally. The RP1 gene was the first identified to cause a
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