m.3243A>G Maculopathy

To the Editor:

With interest we read the article by Kaisari and Borruat about six female patients with maculopathy due to the mtDNA variant m.3243A>G [1]. Visual acuity ranged from 1/60 to 10/10, visual field abnormalities ranged from minimal decreased sensitivity to absolute central scotoma, and three patients exhibited variable degrees of characteristic perimacular and peripapillary retinal pigment epithelium abnormalities, with mottled dye autofluorescence and retinal pigment epithelium atrophy, and deposits on optic coherence tomography [1]. The study is appealing but raises a number of concerns.

Publication History

Article published online:
10 August 2021

• References

• 1 Kaisari E, Borruat FX. The Spectrum of Maculopathy in Mitochondrial DNA A3243G Mutation: A Case Series of Six Patients. Klin Monbl Augenheilkd 2021; 238: 414-417
• 2 Poulton J, Finsterer J, Yu-Wai-Man P. Genetic Counselling for Maternally Inherited Mitochondrial Disorders. Mol Diagn Ther 2017; 21: 419-429
• 3 Finsterer J, Aliyev R. Metabolic stroke or stroke-like lesion: Peculiarities of a phenomenon. J Neurol Sci 2020; 412: 116726
• 4 Deschauer M, Tennant S, Rokicka A. et al. MELAS associated with mutations in the POLG1 gene. Neurology 2007; 68: 1741-1742
• 5 Finsterer J. Clinical Therapeutic Management of Human Mitochondrial Disorders. Pediatr Neurol 2020; 113: 66-74