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[Maternally Inherited Diabetes and Deafness].
A Sampedro1, J J Barbón, J A Alvarez
1Servicio de Oftalmología, Hospital San Agustín, Avilés (Asturias), España. ansamlo@hotmail.com
Archivos De La Sociedad Espanola De Oftalmologia
|August 7, 2009
Summary
Maternally Inherited Diabetes and Deafness (MIDD) syndrome is a rare mitochondrial disorder. This case highlights its association with macular pattern dystrophy and hearing loss, confirmed by electrophysiological studies.
Area of Science:
- Ophthalmology
- Genetics
- Endocrinology
Background:
- Maternally Inherited Diabetes and Deafness (MIDD) syndrome is a rare mitochondrial disorder.
- It accounts for 0.5-2.8% of diabetes mellitus cases.
- MIDD syndrome is characterized by diabetes, neurosensory hearing loss, and often macular pattern dystrophy.
Observation:
- This report details the follow-up of a patient diagnosed with type 2 diabetes mellitus.
- The patient presented with macular pattern dystrophy and bilateral neurosensory hearing loss.
- Electrophysiological assessments were conducted.
Findings:
- Electrophysiological studies revealed abnormal pattern electroretinography (PERG) responses.
- Impaired electro-oculogram (EOG) responses were also observed.
- These findings support the diagnosis of MIDD syndrome.
Implications:
- This case underscores the importance of recognizing MIDD syndrome in patients with diabetes and hearing loss.
- Early diagnosis and management are crucial for patients with this rare mitochondrial disease.
- Further research into the genetic and clinical aspects of MIDD syndrome is warranted.
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