LONG-TERM FOLLOW-UP OF A FAMILY WITH A3243G MITOCHONDRIAL SYNDROME
A3243G mitochondrial syndrome can exhibit heterogeneous ocular and systemic features, even within members of the same family. The development of the characteristic maculopathy with early-onset myocardial infarction warrants genetic testing. Early cardiac and systemic screening may be recommended for individuals with characteristic retinal findings and genetic confirmation.
Authors
- Alessandro Feo (ORCID: https://orcid.org/0009-0005-2999-6782)
- David Sarraf (ORCID: https://orcid.org/0000-0003-4018-2702)
- Claudia Fossataro (ORCID: https://orcid.org/0000-0001-9474-0517)
- Néda Abraham (ORCID: https://orcid.org/0000-0001-6809-9615)
- Shilo Voichanski (ORCID: https://orcid.org/0000-0002-1040-205X)
- Jack D. Lemon
Institutions
- Humanitas University (IT)
- University of California, Los Angeles (US)
- Doheny Eye Institute (US)
- VA Greater Los Angeles Healthcare System (US)
Publication Details
- Journal
- Retinal Cases & Brief Reports
- Published
- 2024-08-16
- DOI
- https://doi.org/10.1097/icb.0000000000001647
- Citations
- 2
- Primary Topic
- Ocular Diseases and Behçet’s Syndrome
- Type
- article
- Field-Weighted Citation Impact
- 1.08