Case
SR1588
Student Mode
AD Stargardt Disease (IIF)
Female
Female
Hidden
SR1588
Student Mode
AD Stargardt Disease (IIF)
Female
Female
Highlighted Images
| Age at visit: 13 years | OD | OS |
|---|---|
History
This 13 year old female has recently noticed some difficulty seeing the blackboard and also reading handwriting in pencil. Her local optometrist noticed some discoloration of her macula 2 years ago.
Pedigree
| Age at visit: 13 years |
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| Age at visit: 14 years |
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| Age at visit: 15 years |
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| Age at visit: 17 years |
| Age at visit: 18 years |
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Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Stargardt Disease | ELOVL4 | Leu263 del5tttCTTAA | AD |