ArticleScientific reports2016
Clinical and genetic analyses reveal novel pathogenic ABCA4 mutations in Stargardt disease families.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 20 citations in OpenAlex.
- Wnt signaling dysregulation drives Stargardt disease pathogenesis.Science China. Life sciences · 2026Article
- ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage.Investigative ophthalmology & visual science · 2023Article
- In vivo multimodal retinal imaging of disease-related pigmentary changes in retinal pigment epithelium.Scientific reports · 2021Article
- Article
- Homozygous mutation in ABCA4 associated with cone rod dystrophy in a patient with Turner syndrome.La Tunisie medicale · 2021Article
- Identification of novel pathogenicBioscience reports · 2019Article
- Genotypic profile and phenotype correlations ofMolecular vision · 2019Article
- Environmental stress impairs photoreceptor outer segment (POS) phagocytosis and degradation and induces autofluorescent material accumulation in hiPSC-RPE cells.Cell death discovery · 2019Article
- Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
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Abstract
Stargardt disease (STGD1) is a juvenile macular degeneration predominantly inherited in an autosomal recessive pattern, characterized by decreased central vision in the first 2 decades of life. The condition has a genetic basis due to mutation in the ABCA4 gene, and arises from the deposition of lipofuscin-like substance in the retinal pigmented epithelium (RPE) with secondary photoreceptor cell death. In this study, we describe the clinical and genetic features of Stargardt patients from four unrelated Chinese cohorts. The targeted exome sequencing (TES) was carried out in four clinically confirmed patients and their family members using a gene panel comprising 164 known causative inherited retinal dystrophy (IRD) genes. Genetic analysis revealed eight ABCA4 mutations in all of the four pedigrees, including six mutations in coding exons and two mutations in adjacent intronic areas. All the affected individuals showed typical manifestations consistent with the disease phenotype. We disclose two novel ABCA4 mutations in Chinese patients with STGD disease, which will expand the existing spectrum of disease-causing variants and will further aid in the future mutation screening and genetic counseling, as well as in the understanding of phenotypic and genotypic correlations.
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