Case
SR1480
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR1480
Student Mode
AR Stargardt Disease (IIA)
Male
Male
History
This 11 year old boy first noticed some difficulty earlier this year tracking the flight of a golf ball. He has also been holding books closer to read.
Pedigree
| Age at visit: 10 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 12 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 14 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 15 years |
| Age at visit: 17 years |
| 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 | Thr1526Met ACG>ATG | IVS30+2028C>T | AR |
Disease:
Gene:
Allele 1:
Thr1526Met ACG>ATG
Allele 2:
IVS30+2028C>T
Inheritance:
AR