SR38

Gyrate Atrophy (IIIA2)

Female

Female

SR38

Gyrate Atrophy (IIIA2)

Female

Female

Highlighted Images

Age at visit: 12 years
OD OS

History

This 12 year old female failed a school vision screening at age 7.

Pedigree

Age at visit: 7 years
Age at visit: 7 years (Visit 2)
Age at visit: 7 years (Visit 3)
Age at visit: 7 years (Visit 4)
Age at visit: 8 years
Age at visit: 9 years
Age at visit: 9 years (Visit 2)
Age at visit: 10 years
Age at visit: 10 years (Visit 2)
Age at visit: 11 years
Age at visit: 11 years (Visit 2)
Age at visit: 12 years
Age at visit: 12 years (Visit 2)
Age at visit: 13 years
Age at visit: 14 years
Age at visit: 14 years (Visit 2)
Age at visit: 15 years
Age at visit: 16 years
Age at visit: 20 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Gyrate Atrophy OAT Gly91Glu GGG>GAG IVS3-6 del9cTGATAGGAG AR
Disease:
Gene:
Allele 1:
Gly91Glu GGG>GAG
Allele 2:
IVS3-6 del9cTGATAGGAG
Inheritance:
AR
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