Case
SR2769
Student Mode
XL Retinoschisis (IIIB1)
Male
Male
Hidden
SR2769
Student Mode
XL Retinoschisis (IIIB1)
Male
Male
Visit at age: 7 years
Fundus Photography - Right - 20/40 -2
Exemplar
Fundus Photography - Left - 20/40 +2
Exemplar
Goldmann Visual Field - Right - 20/40 -2
Exemplar
Goldmann Visual Field - Left - 20/40 +2
Exemplar
Optical Coherence Tomography - Right - 20/40 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -2
Exemplar
Infrared Fundus Photograph - Left - 20/40 +2
Exemplar
Green Autofluorescence - Right - 20/40 -2
Exemplar
Green Autofluorescence - Left - 20/40 +2
Exemplar
Visit at age: 9 years
Goldmann Visual Field - Right - 20/50 +2 sc
Exemplar
Goldmann Visual Field - Left - 20/32 sc
Exemplar
Optical Coherence Tomography - Right - 20/50 +2 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 +2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/32 sc
Exemplar
Visit at age: 11 years
Optical Coherence Tomography - Right - 20/50 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 -1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 sc
Exemplar
Infrared Fundus Photograph - Left - 20/40 -1 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease |
Gene |
Allele 1 variant(s) |
Allele 2 variant(s) |
Inheritance mode |
| XL Retinoschisis |
RS1 |
IVS1-1 G>A |
|
XL |
False Genotype Rate:
Gene Count:
Submit Final Diagnosis
Clear Diagnosis