Case
SR184
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR184
Student Mode
AR Stargardt Disease (IIA)
Male
Male
History
This 6 year old male first experienced a loss of visual acuity at age 5. His acuity was previously normal. He is otherwise healthy.
Pedigree
| Age at visit: 5 years |
| OD | |||
|---|---|---|---|
| Age at visit: 9 years |
| Age at visit: 13 years |
| Age at visit: 14 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | IVS9+1 G>A | IVS37+1 G>A | AR |
Disease:
Gene:
Allele 1:
IVS9+1 G>A
Allele 2:
IVS37+1 G>A
Inheritance:
AR