Dataset Information

RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort.

ABSTRACT: Purpose:To investigate clinical characteristics of RDH5-related fundus albipunctatus (FAP) in a Japanese cohort. Methods: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. Results: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%). Conclusions: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.

SUBMITTER: Katagiri S

PROVIDER: S-EPMC7401827 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature

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RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort.

Katagiri Satoshi S Hayashi Takaaki T Nakamura Masaki M Mizobuchi Kei K Gekka Tamaki T Komori Shiori S Ueno Shinji S Terasaki Hiroko H Sakuramoto Hiroyuki H Kuniyoshi Kazuki K Kusaka Shunji S Nagashima Ryunosuke R Kondo Mineo M Fujinami Kaoru K Tsunoda Kazushige K Matsuura Tomokazu T Kondo Hiroyuki H Yoshitake Kazutoshi K Iwata Takeshi T Nakano Tadashi T

Investigative ophthalmology & visual science 20200301 3

<h4>Purpose</h4>To investigate clinical characteristics of RDH5-related fundus albipunctatus (FAP) in a Japanese cohort.<h4>Methods</h4>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.<h4>Results</h4>Genetic analysis identified eight different RDH5 variants, including seven known RDH5 variants (p.G35S, p.G107R, p.R167H, p.A24 ...[more]

PMID: 32232344

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Project description:Fundus albipunctatus (FA) is a form of congenital stationary night blindness characterized by yellow-white spots, which were classically described as subretinal. Although night blindness and delayed dark adaptation are hallmarks of this condition, recent studies have described a macular phenotype, particularly among older patients. Using a fluorescence adaptive optics scanning laser ophthalmoscope (FAOSLO), this study provides in vivo morphologic data at the cellular level in FA.To study the cone photoreceptors and the albipunctate spots in FA at single-cell resolution.A woman in her 30s with FA underwent a complete ophthalmic examination, including conventional imaging tests, at the University of Rochester. A FAOSLO was used to obtain infrared reflectance images of the cone mosaic at the central fovea and along the superior and temporal meridians to 10° eccentricity. Cone density was measured at the foveal center, and cone spacing was calculated in sampling windows eccentrically. In the area of the albipunctate spots, autofluorescence FAOSLO images (excitation, 561 nm; emission, 624 ? 40 nm) were simultaneously obtained.Structural appearance of cones, cone density and spacing, and reflectance and autofluorescence of albipunctate spots.Cone density was reduced to 70% of the lower limit of the normal range at the foveal center (78.7 × 10(3) cones/mm(2); mean [SD] reference range, 199 [87] × 10(3) cones/mm(2)), and cone spacing was increased eccentrically to 10° (sign test, P =?.045). Individual cone central core reflectances appeared dim, suggesting loss of photoreceptor outer segments. The albipunctate spots were hypoautofluorescent. No photoreceptors or retinal pigment epithelium cells were identified at the locations of the albipunctate spots.Although the predominant clinical symptom of night blindness and the electroretinography results suggest a primary rod dysfunction, examination with a FAOSLO demonstrates that cone density is also reduced. This finding may represent an early sign of progression to macular phenotype in FA. The hypoautofluorescence suggests that the albipunctate spots do not represent lipofuscin.

Dataset Information

RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort.

Publications

RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort.

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