SR2167

AR Stargardt Disease (IIA)

Female

Female

SR2167

AR Stargardt Disease (IIA)

Female

Female

Highlighted Images

Age at visit: 70 years
OD OS

History

This 70 year old woman failed a school vision screening test at age 12.

Pedigree

Age at visit: 70 years
Age at visit: 73 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Stargardt Disease ABCA4 Cys54Tyr (T)GC>(T)AC IVS40+5 G>A AR
Gene:
Allele 1:
Cys54Tyr (T)GC>(T)AC
Allele 2:
IVS40+5 G>A
Inheritance:
AR
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