SR623

MIDD (IID1a)

Female

Female

SR623

MIDD (IID1a)

Female

Female

Highlighted Images

Age at visit: 31 years
OD OS

History

This 31 year old woman had subtle macular abnormalities discovered incidentally earlier that year. Her medical history at the time was unremarkable except for gestational diabetes during her most recent pregnancy. Five years later she was diagnosed with type 2 diabetes managed with oral medication. Two years later she developed sufficient hearing loss that hearing aids were required. Her acuity remained 20/20 OU at that time.

Pedigree

Age at visit: 31 years
Age at visit: 33 years
Age at visit: 33 years (Visit 2)
Age at visit: 36 years
Age at visit: 37 years
Age at visit: 41 years
Age at visit: 46 years
Age at visit: 48 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
MIDD MT-TL1 3243 A>G   MT
Disease:
Gene:
Allele 1:
3243 A>G
Allele 2:
 
Inheritance:
MT
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