StoneRounds Disease Atlas SR623
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StoneRounds Disease Atlas SR623

Case

SR623

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Student Mode

MIDD (IID1a)

Female

Female

Hidden

SR623

Grid View Download View

Student Mode

MIDD (IID1a)

Female

Female

Highlighted Images

Age at visit: 31 years
OD OS
20/20 sc
20/20 sc

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
ODOS
20/20 sc
20/20 sc
ODOS
20/20 sc
20/20 sc
Age at visit: 33 years
ODOS
20/25 sc
20/40 -2 sc
ODOS
20/25 sc
20/40 -2 sc
Age at visit: 33 years (Visit 2)
ODOS
20/25 +2 sc
20/20 -1 sc
Age at visit: 36 years
ODOS
20/20 sc
20/15 -1 sc
ODOS
20/20 sc
20/15 -1 sc
ODOS
20/20 sc
20/15 -1 sc
Age at visit: 37 years
ODOS
20/15 -2 sc
20/20 +3 sc
ODOS
20/15 -2 sc
20/20 +3 sc
OS
20/20 +3 sc
Age at visit: 41 years
ODOS
20/20 -2 sc
20/30 +1 sc
OD
20/20 -2 sc
ODOS
20/20 -2 sc OCT Stack
20/30 +1 sc OCT Stack
ODOS
20/20 -2 sc
20/30 +1 sc
Age at visit: 46 years
ODOS
20/25 -2 sc
20/50 -2 sc
ODOS
20/25 -2 sc
20/50 -2 sc
ODOS
20/25 -2 sc
20/50 -2 sc
ODOS
20/25 -2 sc OCT Stack
20/50 -2 sc OCT Stack
ODOS
20/25 -2 sc
20/50 -2 sc
Age at visit: 48 years
ODOS
20/20 sc OCT Stack
20/60 +2 sc OCT Stack
ODOS
20/20 sc
20/60 +2 sc

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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