ArticleBMC ophthalmology2025
Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies.
Article in BMC ophthalmology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed.
- ABCA4-Associated Retinal Degeneration in 8 Families From the Three Provinces of Northeast China: Identification and Characterization of Potentially Novel Variants.Molecular genetics & genomic medicine · 2026Article
- Screening for RPE65 genetic variants in Egyptian children with inherited retinal disorders: a study from a tertiary eye care center in Egypt.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
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Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThis study investigates the clinical manifestations of inherited retinal diseases (IRD) associated with dual-gene variant constellations involving biallelic ABCA4 variants.
methodsWe assess four cases for their unique phenotypic outcomes due to biallelic ABCA4 variants and additional genotypes in CACNA1F, IMPG1, HK1 and MYO7A, respectively.
resultsThis study investigates the phenotypic impact of dual-gene variants, including biallelic ABCA4 variants and additional retinal gene variants in CACNA1F, IMPG1, HK1 and MYO7A. In MST465-II:1, the ABCA4-CACNA1F constellation led to progressive macular atrophy and night blindness, with nystagmus linked to CACNA1F. In MST448-II:1, ABCA4 variants primarily contributed to a macular dystrophy, while the IMPG1 variant had no obvious impact, suggesting it may be a benign polymorphism. In SRP1400-II:1, a de novo HK1 variant caused retinitis pigmentosa (RP)-like retinal degeneration and intellectual disability and in USHI105-II:1, MYO7A variants primarily resulted in an Usher syndrome 1 phenotype. In both latter cases, ABCA4 variants play a more subtle role. These findings illustrate the importance of critical phenotype and genotype assessment and how complex interactions between ABCA4 and other genetic variants can configure the phenotype, making it challenging to distinguish the contributions of each gene.
conclusionsThis study underscores the importance of advanced diagnostic tools and careful genotype evaluation to accurately identify and understand potential complex genetic interactions in IRDs. The observed phenotypes enhance our understanding of how these genes contribute to human retinal function and dysfunction. Furthermore, these insights can impact clinical decision-making, as patients with dual-gene variant constellations might experience questionable benefit from potential future gene therapies. Thus, careful patient selection and complete genotype and phenotype assessment before treatment is essential to manage potential risks and costs effectively.
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