StoneRounds Disease Atlas SR2273
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StoneRounds Disease Atlas SR2273

Case

SR2273

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Sorsby Fundus Dystrophy (IIH)

Female

Female

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SR2273

Grid View Download View

Student Mode

Sorsby Fundus Dystrophy (IIH)

Female

Female

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Age at visit: 52 years
OD OS
20/63
5/400

History

This 52 year old woman has experienced a gradual reduction in visual acuity and night vision over the past 2 years. A review of her medical history reveals gastric bypass surgery 15 years ago. Her father and sibling were affected with wet macular degeneration in their 40's.

Pedigree

Age at visit: 52 years
ODOS
20/63
5/400
ODOS
20/63
5/400
ODOS
20/63
5/400
ODOS
20/63 OCT Stack
5/400 OCT Stack
ODOS
20/63
5/400
Age at visit: 53 years
ODOS
10/300 OCT Stack
10/200 OCT Stack
ODOS
10/300
10/200
ODOS
10/300
10/200
Age at visit: 55 years
ODOS
10/225
10/225
ODOS
10/225 OCT Stack
10/225 OCT Stack
ODOS
10/225
10/225
Age at visit: 58 years
ODOS
3/100 OCT Stack
3/80 OCT Stack
ODOS
3/100
3/80
ODOS
3/100
3/80
Age at visit: 59 years
ODOS
5/250 OCT Stack
5/120 OCT Stack
ODOS
5/250
5/120

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Sorsby Fundus Dystrophy TIMP3 Ser38Cys TCC>TGC   AD
Disease:
Sorsby Fundus Dystrophy
Gene:
TIMP3
Allele 1:
Ser38Cys TCC>TGC
Allele 2:
 
Inheritance:
AD
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