2020–2021 BCSC Basic and Clinical Science Course™
2 Fundamentals and Principles of Ophthalmology
Part III: Genetics
Chapter 5: Molecular Genetics
Mitochondrial Disease
MELAS and MIDD
Two different disorders—mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) and maternally inherited diabetes and deafness (MIDD; also called type 2 diabetes mellitus with deafness)—are associated with an mtDNA point mutation (A-to-G change at nucleotide position 3243), which affects an mtDNA-encoded tRNA. Macular retinal pigment epithelial atrophy and this mutation have been described in patients with MELAS.
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Isashiki Y, Nakagawa M, Ohba N, et al. Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutation. Acta Ophthalmol Scand. 1998;76(1):6–13.
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Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF. Inherited mitochondrial optic neuropathies. J Med Genet. 2009;46(3):145–158.
Excerpted from BCSC 2020-2021 series: Section 2 - Fundamentals and Principles of Ophthalmology. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.