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DIABETE MITOCHONDRIAL [1 record]

Record 1 2025-08-27

English

Subject field(s)
  • Human Diseases - Various
  • Hearing
  • Visual Disorders
CONT

Maternally inherited diabetes and deafness (MIDD) is an autosomal dominant inherited syndrome caused by the mitochondrial DNA (mDNA) nucleotide mutation A3243G. It affects various organs including the eye with external ophthalmoparesis, ptosis, and bilateral macular pattern dystrophy. The prevalence of retinal involvement in MIDD is high, with 50% to 85% of patients exhibiting some macular changes. ... MIDD progresses slowly over several years and has a good visual prognosis when confined to the perifoveal region. However, atrophic areas can progress toward the fovea with central vision loss mimicking geographic age-related macular degeneration (AMD).

French

Domaine(s)
  • Maladies humaines diverses
  • Ouïe
  • Troubles de la vision
CONT

Diabète mitochondrial. Des lésions atrophiques simulant une DMLA [dégénérescence maculaire liée à l'âge] atrophique peuvent être rencontrées dans le cadre du diabète mitochondrial. Il s’agit d’une affection également appelée «diabète et surdité hérités de la mère» [...] Cette affection est transmise par la mère. Elle est caractérisée par l'association d’un diabète en règle peu sévère, d’une surdité, et d’une dystrophie maculaire caractérisée par l'existence de plages atrophiques associées à des migrations de pigment, se développant en para-fovéolaire [...]

Spanish

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