Case
SR543
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR543
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Highlighted Images
| Age at visit: 62 years | |
| OD | OS |
|---|---|
History
This 62 year old man first noticed a small defect in his central vision at age 10. By age 12 his acuity had fallen to 20/200 OU.
Pedigree
| Age at visit: 62 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 | Asn965Ser AAT>AGT | IVS3-3 C>G | AR |
Disease:
Gene:
Allele 1:
Asn965Ser AAT>AGT
Allele 2:
IVS3-3 C>G
Inheritance:
AR