SR1059

AD Stargardt Disease (IIF)

Female

Female

SR1059

AD Stargardt Disease (IIF)

Female

Female

Highlighted Images

Age at visit: 26 years
OD OS

History

This 26 year old woman first noticed some difficulty seeing text on her computer about 6 months ago. She also feels that her vision in dim light is poorer than her peers.

Pedigree

Age at visit: 26 years
Age at visit: 28 years
Age at visit: 28 years (Visit 2)
Age at visit: 30 years
Age at visit: 31 years
Age at visit: 33 years
Age at visit: 34 years
Age at visit: 36 years
Age at visit: 37 years
Age at visit: 38 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Stargardt Disease PROM1 Arg373Cys CGC>TGC   AD
Gene:
Allele 1:
Arg373Cys CGC>TGC
Allele 2:
 
Inheritance:
AD
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