Case
SR1814
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR1814
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Highlighted Images
| Age at visit: 22 years | OD | OS |
|---|---|
History
This 22 year old man had macular abnormalities noted incidentally at a routine eye exam at age 19. Since then, he has experienced a gradual loss of acuity particularly in the left eye.
Pedigree
| Age at visit: 22 years |
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| Age at visit: 23 years |
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| Age at visit: 24 years |
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| Age at visit: 25 years |
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| Age at visit: 27 years |
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Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Tyr245Stop TAT>TAG | Unknown | AR |
Disease:
Gene:
Allele 1:
Tyr245Stop TAT>TAG
Allele 2:
Unknown
Inheritance:
AR