SR636

AR Stargardt Disease (IIA)

Female

Female

SR636

AR Stargardt Disease (IIA)

Female

Female

Highlighted Images

Age at visit: 31 years
OD OS

History

The 31 year old woman had decreased visual acuity in her left eye over the past year.

Pedigree

Age at visit: 31 years
Age at visit: 55 years
Age at visit: 61 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Stargardt Disease ABCA4 Val256Val GTG>GTT Gly1961Glu GGA>GAA AR
Gene:
Allele 1:
Val256Val GTG>GTT
Allele 2:
Gly1961Glu GGA>GAA
Inheritance:
AR
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