Case
SR24
Student Mode
Retinoblastoma (IIID2)
Female
Female
Hidden
SR24
Student Mode
Retinoblastoma (IIID2)
Female
Female
Visit at age: 4 months
Fundus Photography - Right - CSM
Exemplar
Fundus Photography - Left - UCSUM
Exemplar
B-Scan Ultrasonography - Right - CSM
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B-Scan Ultrasonography - Left - UCSUM
Exemplar
Visit at age: 4 months (Visit 2)
Pathology - Left - -
Exemplar
Visit at age: 8 months (Visit 3)
Fundus Photography - Right - Fixed and Focused
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Visit at age: 9 months (Visit 4)
Fundus Photography - Right - Fixed and Focused
Exemplar
Visit at age: 10 months (Visit 5)
Fundus Photography - Right - Fixed and Focused
Exemplar
Visit at age: 11 months (Visit 6)
Fundus Photography - Right - Fixed and Focused
Exemplar
Visit at age: 19 months
Fundus Photography - Right - 20/32 sc
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Visit at age: 4 years
Fundus Photography - Right - 20/20 sc
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Visit at age: 9 years
Fundus Photography - Right - 20/20
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Case Level Images
Diagnosis & molecular findings
| Disease |
Gene |
Allele 1 variant(s) |
Allele 2 variant(s) |
Inheritance mode |
| Retinoblastoma |
RB1 |
Cys489Tyr TGC>TAC |
|
AD |
Allele 1:
Cys489Tyr TGC>TAC
False Genotype Rate:
Gene Count:
Submit Final Diagnosis
Clear Diagnosis