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StoneRounds Disease Atlas SR2302

SR2302

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MIDD (IID1a)

Female

Female

SR2302

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MIDD (IID1a)

Female

Female

Highlighted Images

Age at visit: 64 years
OD OS
20/50 -1
20/20 -1

History

This 64 year old woman was diagnosed with macular degeneration at age 54 on a routine eye examination. She was asymptomatic at that time.

Pedigree

Age at visit: 64 years
Age at visit: 65 years
Age at visit: 69 years
Age at visit: 71 years

Diagnosis & molecular findings

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