Melas syndrome 7

General: Changing of threonine at amino ac 444c24e id 109 to an alanine; A3245G mitochondrial DNA point mutation Cataracts; RPE abnormalities with age-related maculopathy

Clinical: Migraines; sensorineural hearing loss; grand mal seizures; stroke-like episodes; lactic acidosis; ragged-red muscle fibers

Jones, M, Mitchell P, Wang JJ, et al. MELAS A3245G mitochondrial DNA mutation and age related maculopathy. Am J Ophthalmol 2004; 138: 1051-l053.

Latkany P, Ciulla TA, Cacchillo PF, et al. Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation. Am J Ophthalmol 1999; 128: 112-l14.

Latvala T, Mustonen E, Uusitalo R, et al. Pigmentary retinopathy in patients with the MELAS mutation 3243A-G in mitochondrial DNA. Graefes Arch Clin Exp Ophthalmol. 2002; 240: 795-801.