Novel <i>KMT2D</i> pathogenic variant causing Kabuki Syndrome with associated macular abnormalities and retinopathy of prematurity
Although our patient accounts for the sixth known case of foveal lesions associated with KS, she represents the third molecularly confirmed case of a de novo, nonsense <i>KMT2D</i> variant with macular abnormalities. In silico analysis with the prediction program MutationTaster found the mutation to be deleterious. Genetic testing, along with ophthalmologic examination and multimodal imaging, are indispensable tools for physicians, especially when confronted with patients suspected of having KS. When effectively used together, these tools can facilitate vision-preserving strategies.
Authors
- Audina M. Berrocal (ORCID: https://orcid.org/0000-0002-2446-2184)
- Deborah Barbouth
- Francisco López-Font (ORCID: https://orcid.org/0009-0001-9668-6515)
- Sofía De Arrigunaga (ORCID: https://orcid.org/0000-0002-6908-4308)
- Julia Lynne Hudson
- Serena Shah (ORCID: https://orcid.org/0000-0002-0981-7792)
- Natasha Ferreira Santos da Cruz (ORCID: https://orcid.org/0000-0002-5209-9204)
- Jason Fan (ORCID: https://orcid.org/0000-0003-3481-1728)
- Nicholas A. Borja (ORCID: https://orcid.org/0000-0002-9199-9096)
Institutions
- University of Miami (US)
- Dr. John T. Macdonald Foundation (US)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-05-29
- DOI
- https://doi.org/10.1080/13816810.2025.2505913
- Citations
- 2
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 3.63
Funders
- U.S. Department of Defense
- Research to Prevent Blindness