Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1 |
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Authors: | Xiao Liu Xiaohong Meng Lizhu Yang Yanling Long Yu Fujinami‐Yokokawa Jiayun Ren Toshihide Kurihara Kazuo Tsubota Kazushige Tsunoda Kaoru Fujinami Shiying Li East Asia Inherited Retinal Disease Society Study Group |
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Institution: | 1. Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Medical University), Chongqing, China;2. Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan;3. Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan;4. Department of Health Policy and Management, Keio University School of Medicine, Tokyo, Japan;5. Department of Public Health Research, Yokokawa Clinic, Osaka, Japan;6. https://orcid.org/0000-0003-4248-0033;7. UCL Institute of Ophthalmology, London, UK;8. Moorfields Eye Hospital, London, UK;9. Kaoru Fujinami, 2‐5‐1, Higashigaoka, Meguro‐ku, Laboratory of Visual Physiology, Division for Vision Research, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Tokyo 152‐8902 Japan.;10. Shiying Li, Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Medical University), No. 30 Gaotanyan Street, Shapingba District, Chongqing 400038, P.R. China.;11. https://orcid.org/0000-0001-9783-9520 |
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Abstract: | Stargardt disease 1 (STGD1) is the most prevalent retinal dystrophy caused by pathogenic biallelic ABCA4 variants. Forty‐two unrelated patients mostly originating from Western China were recruited. Comprehensive ophthalmological examinations, including visual acuity measurements (subjective function), fundus autofluorescence (retinal imaging), and full‐field electroretinography (objective function), were performed. Next‐generation sequencing (target/whole exome) and direct sequencing were conducted. Genotype grouping was performed based on the presence of deleterious variants. The median age of onset/age was 10.0 (5–52)/29.5 (12–72) years, and the median visual acuity in the right/left eye was 1.30 (0.15–2.28)/1.30 (0.15–2.28) in the logarithm of the minimum angle of resolution unit. Ten patients (10/38, 27.0%) showed confined macular dysfunction, and 27 (27/37, 73.7%) had generalized retinal dysfunction. Fifty‐eight pathogenic/likely pathogenic ABCA4 variants, including 14 novel variants, were identified. Eight patients (8/35, 22.8%) harbored multiple deleterious variants, and 17 (17/35, 48.6%) had a single deleterious variant. Significant associations were revealed between subjective functional, retinal imaging, and objective functional groups, identifying a significant genotype–phenotype association. This study illustrates a large phenotypic/genotypic spectrum in a large well‐characterized STGD1 cohort. A distinct genetic background of the Chinese population from the Caucasian population was identified; meanwhile, a genotype–phenotype association was similarly represented. |
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Keywords: | ABCA4 electroretinogram multifocal electroretinogram Stargardt disease |
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