Macular pattern dystrophy associated with a mutation of mitochondrial DNA.
case_report · Level V
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- Record sourced from PubMed, PMID 7639309.
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Abstract
To establish association of a macular pattern dystrophy with maternally inherited diabetes and deafness, a new subtype of diabetes mellitus caused by a mutation of mitochondrial DNA (mtDNA). Two probands of two different families with maternally inherited diabetes and deafness were examined. Both probands exhibited a macular pattern dystrophy, maternally inherited in one patient. The association of a macular pattern dystrophy with diabetes should lead to screening for a mutation of mtDNA.
Medical subject headings
- DNA, Mitochondrial
- Diabetes Mellitus
- Hearing Loss, Sensorineural
- Macula Lutea
- Macular Degeneration
- Point Mutation