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Posters

Maternally inherited diabetes and deafness (MIDD) and macular dystrophy- a case report

Poster Details

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

Abstract Details



Purpose:

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.

Setting:

Ophthalmology Department, Hospital de Braga, Portugal

Methods:

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.

Results:

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.

Conclusions:

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.

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