Case
SR678
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR678
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Highlighted Images
| Age at visit: 11 years | |
| OD | OS |
|---|---|
History
This 11 year old female was correctable to 20/40 at age 9. At age 10 she had a febrile illness with a rash and was evaluated by rheumatology. At age 27 she experienced a dramatic decrease of vision in the right eye over a few days' time.
Pedigree
| Age at visit: 22 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 26 years |
| Age at visit: 27 years |
| Age at visit: 27 years (Visit 2) |
| Age at visit: 27 years (Visit 3) |
| Age at visit: 31 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 32 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 33 years |
| Age at visit: 34 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 35 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 36 years |
| Age at visit: 40 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Glu1087Lys GAA>AAA | IVS38-10T>C | AR |
Disease:
Gene:
Allele 1:
Glu1087Lys GAA>AAA
Allele 2:
IVS38-10T>C
Inheritance:
AR