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StoneRounds Disease Atlas SR41

SR41

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Sorsby Fundus Dystrophy (IIH)

Female

Female

SR41

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Sorsby Fundus Dystrophy (IIH)

Female

Female

Highlighted Images

Age at visit: 64 years
OD OS
20/200 +2
20/160 -1

History

This 64 year old woman first noticed some distortion in her vision at age 46 while looking at graph paper.

Pedigree

Age at visit: 55 years
Age at visit: 64 years
Age at visit: 65 years
Age at visit: 66 years
Age at visit: 70 years

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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