Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1

Xiao Liu, Xiaohong Meng, Lizhu Yang, Yanling Long, Yu Fujinami-Yokokawa, Jiayun Ren, Toshihide Kurihara, Kazuo Tsubota, Kazushige Tsunoda, Kaoru Fujinami, Shiying Li

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5 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)694-707
Number of pages14
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Issue number3
Publication statusPublished - 2020 Sept 1


  • ABCA4
  • Stargardt disease
  • electroretinogram
  • multifocal electroretinogram

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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