Phenotype-integrated reinterpretation of laboratory-reported <i>ABCA4</i> gene sequencing results improves molecular diagnostic rate in Black/non-White patients and those with late-onset Stargardt macular dystrophy
Posttest reinterpretation improves diagnostic yield, particularly for Black and late-onset STGD patients, underscoring the value of ancestry-informed interpretation, historical reanalysis, and genotype-phenotype correlation.
Authors
- Christy A. Smith
- Maria Ludovica Ruggeri (ORCID: https://orcid.org/0000-0002-5856-6686)
- Setu Mehta (ORCID: https://orcid.org/0000-0002-6655-7878)
- Jefferson J. Doyle (ORCID: https://orcid.org/0000-0001-6075-3977)
- Dorothy Wang (ORCID: https://orcid.org/0000-0001-5850-7320)
- Carolyn Applegate (ORCID: https://orcid.org/0000-0002-9323-3887)
- Kelsey S. Guthrie (ORCID: https://orcid.org/0000-0002-5434-8729)
- Mandeep Singh (ORCID: https://orcid.org/0000-0003-0590-6197)
- Bani Antonio-Aguirre
- Annabelle Pan
Institutions
- Johns Hopkins University (US)
- Johns Hopkins Medicine (US)
- Johns Hopkins Hospital (US)
- Smith-Kettlewell Eye Research Institute (US)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2026-03-16
- DOI
- https://doi.org/10.1080/13816810.2026.2621864
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00