Case
SR840
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR840
Student Mode
AR Stargardt Disease (IIA)
Female
Female
History
This 27 year old woman first noticed some reduction in her acuity at age 17.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Asn1442Lys AAC>AAA | IVS30+1321 A>G | AR |
Disease:
Gene:
Allele 1:
Asn1442Lys AAC>AAA
Allele 2:
IVS30+1321 A>G
Inheritance:
AR