SR23

Sorsby Fundus Dystrophy (IIH)

Female

Female

SR23

Sorsby Fundus Dystrophy (IIH)

Female

Female

Highlighted Images

Age at visit: 43 years
OD OS

Age at visit: 42 years
Age at visit: 43 years
Age at visit: 43 years (Visit 2)
Age at visit: 48 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Sorsby Fundus Dystrophy TIMP3 Cys24Arg TGC>CGC   AD
Gene:
Allele 1:
Cys24Arg TGC>CGC
Allele 2:
 
Inheritance:
AD
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