Case
SR386
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR386
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Highlighted Images
| Age at visit: 52 years | OD | OS |
|---|---|
Pedigree
| Age at visit: 52 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
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| OD | OS | ||
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| Age at visit: 54 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 57 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
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| OD | OS | ||
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Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Cys205Phe TGC>TTC | Gly863Ala (G)GA>(G)CA | AR |
Disease:
Gene:
Allele 1:
Cys205Phe TGC>TTC
Allele 2:
Gly863Ala (G)GA>(G)CA
Inheritance:
AR