Case
SR2703
Student Mode
Tuberous Sclerosis (IIID3)
Male
Male
Hidden
SR2703
Student Mode
Tuberous Sclerosis (IIID3)
Male
Male
Visit at age: 4 years
Fundus Photography - Right - 20/30
Exemplar
Fundus Photography - Left - 20/30
Exemplar
Visit at age: 5 years
Fundus Photography - Right - 20/25
Exemplar
Fundus Photography - Left - 20/25
Exemplar
Visit at age: 8 years
Fundus Photography - Right - 20/25 +2 sc
Exemplar
Fundus Photography - Left - 20/20 -2 sc
Exemplar
Fundus Montage - Right - 20/25 +2 sc
Exemplar
Fundus Montage - Left - 20/20 -2 sc
Exemplar
Visit at age: 9 years
Goldmann Visual Field - Right - 20/20 sc
Exemplar
Goldmann Visual Field - Left - 20/20 -2 sc
Exemplar
Visit at age: 10 years
Fundus Photography - Right - 20/20 -2 sc
Exemplar
Fundus Photography - Left - 20/20 -2 sc
Exemplar
Fundus Montage - Right - 20/20 -2 sc
Exemplar
Fundus Montage - Left - 20/20 -2 sc
Exemplar
Visit at age: 11 years
Fundus Photography - Right - 20/20 sc
Exemplar
Fundus Photography - Left - 20/20 -1 sc
Exemplar
Fundus Montage - Right - 20/20 sc
Exemplar
Fundus Montage - Left - 20/20 -1 sc
Exemplar
Visit at age: 12 years
Fundus Photography - Right - 20/20 sc
Exemplar
Fundus Photography - Left - 20/20 sc
Exemplar
Fundus Montage - Right - 20/20 sc
Exemplar
Fundus Montage - Left - 20/20 sc
Exemplar
Goldmann Visual Field - Right - 20/20 sc
Exemplar
Goldmann Visual Field - Left - 20/20 sc
Exemplar
Visit at age: 14 years
Fundus Photography - Right - 20/20 sc
Exemplar
Fundus Photography - Left - 20/20 sc
Exemplar
Fundus Montage - Right - 20/20 sc
Exemplar
Fundus Montage - Left - 20/20 sc
Exemplar
Goldmann Visual Field - Right - 20/20 sc
Exemplar
Goldmann Visual Field - Left - 20/20 sc
Exemplar
Visit at age: 15 years
Fundus Photography - Right - 20/20 -1 sc
Exemplar
Fundus Photography - Left - 20/20 -1 sc
Exemplar
Goldmann Visual Field - Right - 20/20 -1 sc
Exemplar
Goldmann Visual Field - Left - 20/20 -1 sc
Exemplar
Visit at age: 16 years
Fundus Photography - Right - 20/20 sc
Exemplar
Fundus Photography - Left - 20/20 -1 sc
Exemplar
Goldmann Visual Field - Right - 20/20 sc
Exemplar
Goldmann Visual Field - Left - 20/20 -1 sc
Exemplar
Visit at age: 17 years
Fundus Photography - Right - 20/20 sc
Exemplar
Fundus Photography - Left - 20/20 -2 sc
Exemplar
Fundus Montage - Right - 20/20 sc
Exemplar
Fundus Montage - Left - 20/20 -2 sc
Exemplar
Visit at age: 18 years
Fundus Photography - Right - 20/20 -1 sc
Exemplar
Fundus Photography - Left - 20/20 -1 sc
Exemplar
Optical Coherence Tomography - Right - 20/20 -1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 -1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/20 -1 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease |
Gene |
Allele 1 variant(s) |
Allele 2 variant(s) |
Inheritance mode |
| Tuberous Sclerosis |
TSC2 |
Glu1513Stop GAG>TAG |
|
AD |
Allele 1:
Glu1513Stop GAG>TAG
False Genotype Rate:
Gene Count:
Submit Final Diagnosis
Clear Diagnosis