Case
SR2254
Student Mode
Retinoblastoma (IIID2)
Male
Male
Hidden
SR2254
Student Mode
Retinoblastoma (IIID2)
Male
Male
Visit at age: 2 weeks
Fundus Photography - Right - Wince to Light
Exemplar
Fundus Photography - Left - Wince to Light
Exemplar
Visit at age: 5 weeks (Visit 2)
Fundus Photography - Right - Wince to Light
Exemplar
Fundus Photography - Left - Wince to Light
Exemplar
Visit at age: 2 months (Visit 3)
Fundus Photography - Right - Wince to Light
Exemplar
Fundus Photography - Left - Wince to Light
Exemplar
Visit at age: 2 months (Visit 4)
Fundus Photography - Right - Wince to Light
Exemplar
Fundus Photography - Left - Wince to Light
Exemplar
Visit at age: 6 months (Visit 5)
Fundus Photography - Right - CSM
Exemplar
Fundus Photography - Left - CSM
Exemplar
Visit at age: 8 years
Fundus Photography - Right - 20/60 -2 sc
Exemplar
Fundus Photography - Left - 20/60 -2 sc
Exemplar
Optical Coherence Tomography - Right - 20/60 -2 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/60 -2 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/60 -2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/60 -2 sc
Exemplar
Visit at age: 10 years
Optical Coherence Tomography - Right - 20/50
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50
Exemplar
Infrared Fundus Photograph - Left - 20/50
Exemplar
Visit at age: 11 years
Optical Coherence Tomography - Right - 20/40 +2
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/50 +2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 +2
Exemplar
Infrared Fundus Photograph - Left - 20/50 +2
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease |
Gene |
Allele 1 variant(s) |
Allele 2 variant(s) |
Inheritance mode |
| Retinoblastoma |
RB1 |
Arg556Stop CGA>TGA |
|
AD |
Allele 1:
Arg556Stop CGA>TGA
False Genotype Rate:
Gene Count:
Submit Final Diagnosis
Clear Diagnosis