Case
SR818
Student Mode
MCL (IB6)
Male
Male
Hidden
SR818
Student Mode
MCL (IB6)
Male
Male
Visit at age: 10 years
Goldmann Visual Field - Right - 20/63 +1
Exemplar
Goldmann Visual Field - Left - 20/32
Exemplar
Optical Coherence Tomography - Right - 20/63 +1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/63 +1
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Infrared Fundus Photograph - Left - 20/32
Exemplar
Visit at age: 10 years (Visit 2)
Fundus Photography - Right - 20/63 +2
Exemplar
Fundus Photography - Left - 20/32 +1
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Goldmann Visual Field - Right - 20/63 +2
Exemplar
Goldmann Visual Field - Left - 20/32 +1
Exemplar
Optical Coherence Tomography - Right - 20/63 +2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 +1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/63 +2
Exemplar
Infrared Fundus Photograph - Left - 20/32 +1
Exemplar
Visit at age: 12 years
Fundus Photography - Right - 20/63 -1
Exemplar
Fundus Photography - Left - 20/32 -1
Exemplar
Goldmann Visual Field - Right - 20/63 -1
Exemplar
Goldmann Visual Field - Left - 20/32 -1
Exemplar
Optical Coherence Tomography - Right - 20/63 -1
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/32 -1
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/63 -1
Exemplar
Infrared Fundus Photograph - Left - 20/32 -1
Exemplar
Visit at age: 13 years
Fundus Photography - Right - 20/63 -2
Exemplar
Fundus Photography - Left - 20/40
Exemplar
Goldmann Visual Field - Right - 20/63 -2
Exemplar
Goldmann Visual Field - Left - 20/40
Exemplar
Optical Coherence Tomography - Right - 20/63 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/63 -2
Exemplar
Infrared Fundus Photograph - Left - 20/40
Exemplar
Visit at age: 15 years
Goldmann Visual Field - Right - 20/100
Exemplar
Goldmann Visual Field - Left - 20/40 -1
Exemplar
Optical Coherence Tomography - Right - 20/100
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100
Exemplar
Infrared Fundus Photograph - Left - 20/40 -1
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Blue Autofluorescence - Right - 20/100
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Visit at age: 17 years
Fundus Photography - Right - 20/125 -1
Exemplar
Fundus Photography - Left - 20/50 +1
Exemplar
Goldmann Visual Field - Right - 20/125 -1
Exemplar
Goldmann Visual Field - Left - 20/50 +1
Exemplar
Optical Coherence Tomography - Right - 20/125 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 +1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 -1
Exemplar
Infrared Fundus Photograph - Left - 20/50 +1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease |
Gene |
Allele 1 variant(s) |
Allele 2 variant(s) |
Inheritance mode |
| MCL |
KIF11 |
Ser233Asn AG(T)>AA(T) |
|
AD |
Allele 1:
Ser233Asn AG(T)>AA(T)
False Genotype Rate:
Gene Count:
Submit Final Diagnosis
Clear Diagnosis