Case
SR708
Student Mode
Best Disease (IIB)
Female
Female
Hidden
SR708
Student Mode
Best Disease (IIB)
Female
Female
Highlighted Images
| Age at visit: 12 years | |
| OD | OS |
|---|---|
History
This 12 year old female was struck in the eye while tussling with her sibling.
Pedigree
| Age at visit: 12 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 12 years (Visit 2) |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 13 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 18 years |
| OS | |||
|---|---|---|---|
| Age at visit: 18 years (Visit 2) |
| OS | |||
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| Age at visit: 19 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 22 years |
| OS | |||
|---|---|---|---|
| Age at visit: 22 years (Visit 2) |
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| OD | OS | ||
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| Age at visit: 24 years |
| OD | OS | ||
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| OD | OS | ||
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| Age at visit: 26 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 28 years |
| OD | OS | ||
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| OD | OS | ||
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| OD | OS | ||
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| Age at visit: 29 years |
| OS | |||
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| OD | OS | ||
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| Age at visit: 29 years (Visit 2) |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 31 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
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| Age at visit: 32 years |
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| OD | OS | ||
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| Age at visit: 34 years |
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Best Disease | BEST1 | Asp302Ala GAT>GCT | AD |