What question did this study set out to answer?

The research aims to understand how the ABCA4 c.5882G>A variant contributes to variations in disease severity in Stargardt Disease.

February 14, 2026Open Access

Genetic Correlates of Phenotypic Variability in c.5882GA p.(Gly1961Glu)-Associated Stargardt Disease

Key Points

The research aims to understand how the ABCA4 c.5882G>A variant contributes to variations in disease severity in Stargardt Disease.
Analyzed the impact of the ABCA4 c.5882G>A variant on disease severity across different patients.
Investigated the influence of the second ABCA4 allele on phenotypic variability.
Identified significant interpatient variability in the severity of Stargardt Disease linked to genetic factors.
Emphasized the necessity for precise genotypic analysis in patient care and treatment planning.

Abstract

The ABCA4 c.5882G>A p.(Gly1961Glu) variant is associated with substantial interpatient variability in disease severity, heavily influenced by the nature of the second ABCA4 allele. These findings highlight the importance of precise genotypic characterization in prognostic counseling, clinical trial stratification, and the design of targeted gene therapies.

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Authors

Jeroen A. A. H. Pas

Sandrine H. Künzel

Georg Ansari

Journals

Investigative Ophthalmology & Visual Science

Actions

Institutions

Radboud University Nijmegen

University of Bonn

University of Basel

References and Citations

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Building similarity graph...

Analyzing shared references across papers

Genetic Correlates of Phenotypic Variability in c.5882GA p.(Gly1961Glu)-Associated Stargardt Disease

Key Points

Abstract

Citation Network

Connected Papers

Discussion

Authors

Journals

Actions

Institutions

References and Citations

Citation Network

Connected Papers

Discussion

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