Case
SR1823
Student Mode
Pattern Dystrophy (IIC)
Male
Male
Hidden
SR1823
Student Mode
Pattern Dystrophy (IIC)
Male
Male
Highlighted Images
| Age at visit: 49 years | OD | OS |
|---|---|
History
This 49 year old man was first told he had a fundus abnormality on a routine eye exam at age 34. Ten years later he noticed some distortion just superior to fixation.
Pedigree
| Age at visit: 46 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
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| OD | OS | ||
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| OD | OS | ||
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| OD | OS | ||
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| Age at visit: 49 years |
| OD | OS | ||
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| Age at visit: 49 years (Visit 2) |
| Age at visit: 50 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Pattern Dystrophy | PRPH2 | Gln239Stop CAG>TAG | AD |