Case
SR38
Student Mode
Gyrate Atrophy (IIIA2)
Female
Female
Hidden
SR38
Student Mode
Gyrate Atrophy (IIIA2)
Female
Female
History
This 12 year old female failed a school vision screening at age 7.
Pedigree
| Age at visit: 7 years |
| Age at visit: 8 years |
| Age at visit: 9 years (Visit 2) |
| Age at visit: 10 years (Visit 2) |
| Age at visit: 11 years (Visit 2) |
| Age at visit: 12 years |
| Age at visit: 12 years (Visit 2) |
| Age at visit: 14 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