Case
SR1753
Student Mode
XL Retinoschisis (IIIB1)
Male
Male
Hidden
SR1753
Student Mode
XL Retinoschisis (IIIB1)
Male
Male
Visit at age: 24 years
Fundus Photography - Right - 20/50 -2
Exemplar
Fundus Photography - Left - 20/50
Exemplar
Visit at age: 41 years
Fundus Photography - Right - 20/32 -2
Exemplar
Fundus Photography - Left - 20/32 -1
Exemplar
Fundus Montage - Right - 20/32 -2
Exemplar
Fundus Montage - Left - 20/32 -1
Exemplar
Goldmann Visual Field - Right - 20/32 -2
Exemplar
Goldmann Visual Field - Left - 20/32 -1
Exemplar
Optical Coherence Tomography - Right - 20/32 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 -2
Exemplar
Infrared Fundus Photograph - Left - 20/32 -1
Exemplar
Visit at age: 42 years
Goldmann Visual Field - Right - 20/40 +1
Exemplar
Goldmann Visual Field - Left - 20/32
Exemplar
Optical Coherence Tomography - Right - 20/40 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 +1
Exemplar
Infrared Fundus Photograph - Left - 20/32
Exemplar
Visit at age: 48 years
Goldmann Visual Field - Right - 20/40 -1
Exemplar
Goldmann Visual Field - Left - 20/40
Exemplar
Optical Coherence Tomography - Right - 20/40 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -1
Exemplar
Infrared Fundus Photograph - Left - 20/40
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinoschisis | RS1 | Tyr89Cys TAT>TGT | XL |