Case
SR2144
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR2144
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Highlighted Images
| Age at visit: 30 years | OD | OS |
|---|---|
History
This 30 year old asymptomatic man had fundus abnormalities identified incidentally on a routine exam.
Pedigree
| Age at visit: 30 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | IVS30+1321 A>G | Asn965Ser AAT>AGT | AR |
Disease:
Gene:
Allele 1:
IVS30+1321 A>G
Allele 2:
Asn965Ser AAT>AGT
Inheritance:
AR