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Satoshi Katagiri, Takaaki Hayashi, Masaki Nakamura, Kei Mizobuchi, Tamaki Gekka, Shiori Komori, Shinji Ueno, Hiroko Terasaki, Hiroyuki Sakuramoto, Kazuki Kuniyoshi, Shunji Kusaka, Ryunosuke Nagashima, Mineo Kondo, Kaoru Fujinami, Kazushige Tsunoda, Tomokazu Matsuura, Hiroyuki Kondo, Kazutoshi Yoshitake, Takeshi Iwata, Tadashi Nakano; RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort. Invest. Ophthalmol. Vis. Sci. 2020;61(3):53. doi: https://doi.org/10.1167/iovs.61.3.53.
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© ARVO (1962-2015); The Authors (2016-present)
To investigate clinical characteristics of RDH5-related fundus albipunctatus (FAP) in a Japanese cohort.
Twenty-five patients from 22 pedigrees with RDH5-related FAP were studied. Ophthalmic medical records were reviewed. For genetic analysis, either Sanger sequencing of the RDH5 gene or whole-exome sequencing was performed.
Genetic analysis identified eight different RDH5 variants, including seven known RDH5 variants (p.G35S, p.G107R, p.R167H, p.A240GfsX19, p.R278X, p.R280H, and p.L310delinsEV) and a novel variant: c.259C>T (p.Q87X). The most frequently observed variant was p.L310delinsEV (65.2%, 30/46 alleles). Of 50 eyes examined, 44 eyes (88.0%) showed logMAR best-corrected visual acuity (BCVA) of 0.10 or better. In optical coherence tomography, macular involvement was observed in 12 patients (24 eyes). Ten patients (83.3%) who had good BCVA (0.10 or better) exhibited diffuse disruption of the outer retina with foveal sparing, and two patients (16.7%) exhibited diffuse disruption throughout the macula and decreased BCVA. Among the 24 eyes, ring-or crescent-shaped hyperautofluorescence or irregular autofluorescence around the fovea was observed in 15 eyes (83.3%) of 18 eyes examined by fundus autofluorescence imaging. Full-field electroretinography showed extinguished or severely decreased rod responses in all 23 examined patients, whereas decreased cone responses were seen in 17 patients (73.9%).
Multimodal imaging and electroretinography of RDH5-related FAP revealed high frequencies of macular involvement in older patients and decreased cone responses. Our findings suggest that progressive macular/cone dysfunction, as well as delayed rod function, may be key phenotypic features of RDH5-related FAP.
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