Related Experiment Video
Updated: Jun 16, 2025
Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
LONG-TERM FOLLOW-UP OF A FAMILY WITH A3243G MITOCHONDRIAL SYNDROME
Alessandro Feo1,2, Claudia Fossataro1, Néda Abraham1
1Retinal Disorders and Ophthalmic Genetics Division, Stein Eye Institute, University of California of Los Angeles, David Geffen School of Medicine at UCLA, Los Angeles, California.
Purpose:
The objective of the study was to describe the clinical and multimodal imaging features of a family (proband, sister, and mother) with A3243G mitochondrial retinopathy and long-term follow-up.
Methods:
Medical and imaging records were retrospectively evaluated. Multimodal imaging included ultra-wide-field color fundus photography, fundus autofluorescence, and spectral-domain optical coherence tomography. Long-term multimodal imaging follow-up ranged from 6 to 15 years and was available for each member.
Results:
The proband (Case 1) exhibited rapidly progressive bilateral macular atrophy, corneal endothelial polymegathism, and an A3243G mutation in the mitochondrial DNA. The proband also endorsed a history of early-onset myocardial infarction 10 years ago at the age of 42 years. The proband's sister (Case 2) only exhibited unilateral focal macular atrophy but admitted to a history of severe multiorgan systemic disease, including multiple sclerosis and major depression disorder. The proband's mother (Case 3), the only one with diabetes mellitus and hearing loss, originally presented with branch retinal vein occlusion in the right eye and pattern dystrophy in the left eye, which evolved to geographic atrophy, right eye > left eye, 15 years later.
Conclusion:
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.
