SR307

AR Stargardt Disease (IIA)

Male

Male

SR307

AR Stargardt Disease (IIA)

Male

Male

Highlighted Images

Age at visit: 18 years
OD OS

History

This 18 year old man could not be corrected to 20/20 at his most recent visit to his ophthalmologist. His maternal grandmother experienced reduced acuity in her 50's.

Pedigree

Age at visit: 18 years
Age at visit: 20 years
Age at visit: 21 years
Age at visit: 22 years
Age at visit: 23 years
Age at visit: 24 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Stargardt Disease ABCA4 Gly1961Glu GGA>GAA Glu1122Lys GAG>AAG AR
Gene:
Allele 1:
Gly1961Glu GGA>GAA
Allele 2:
Glu1122Lys GAG>AAG
Inheritance:
AR
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