Case
SR636
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR636
Student Mode
AR Stargardt Disease (IIA)
Female
Female
History
The 31 year old woman had decreased visual acuity in her left eye over the past year.
Pedigree
| Age at visit: 55 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 |
Disease:
Gene:
Allele 1:
Val256Val GTG>GTT
Allele 2:
Gly1961Glu GGA>GAA
Inheritance:
AR