First Author: G.Calvão-Santos PORTUGAL
Co Author(s): L. Mendonça R. Gentil N. Gomes R. Leite K. Sousa F. Vaz 0 0 0 0 0 0 0 0 0
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Maternally inherited diabetes and deafness (MIDD), a mitochondrial disease first described in 1992, results from the mitochondrial DNA mutation (the substitution of guanine for adenine at position 3243 of leucine transfer RNA) and affects up to 1% of the patients with diabetes. The prevalence of macular pattern dystrophy (MPD) in this setting is high.
Ophthalmology Department, Hospital de Braga, Portugal
A 47 year old female patient was referred for diabetic retinopathy screening. The patient had a medical history of congenital deafness and difficult to control diabetes mellitus diagnosed one year before. She had a family history of 3 deaf and diabetic brothers and 2 deaf male children.
Ophthalmological examination revealed bilateral macular pattern dystrophy (MPD) characterized by linear pigmentation surrounding the macula and optic disc. Visual acuity was 7/10 OD and 8/10 OS. The genetic mutation that established the diagnosis of MIDD was confirmed and the patient was referred to Endocrinology.
The prevalence of MPD in MIDD is high. Its detection may be helpful for the diagnosis of this new subtype of diabetes, for which specific treatments may be proposed.