Case
SR1585
Student Mode
XL Retinoschisis (IIIB1)
Male
Male
Hidden
SR1585
Student Mode
XL Retinoschisis (IIIB1)
Male
Male
Visit at age: 7 years
Fundus Photography - Right - 20/80 +1
Exemplar
Fundus Photography - Left - 20/125 +2
Exemplar
Goldmann Visual Field - Right - 20/80 +1
Exemplar
Goldmann Visual Field - Left - 20/125 +2
Exemplar
Optical Coherence Tomography - Right - 20/80 +1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125 +2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/80 +1
Exemplar
Infrared Fundus Photograph - Left - 20/125 +2
Exemplar
Visit at age: 9 years
Goldmann Visual Field - Right - 20/80 +2
Exemplar
Goldmann Visual Field - Left - 20/80 -1
Exemplar
Optical Coherence Tomography - Right - 20/80 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/80 +2
Exemplar
Infrared Fundus Photograph - Left - 20/80 -1
Exemplar
Swept-Source OCT - Right - 20/80 +2
Exemplar
Swept-Source OCT - Left - 20/80 -1
Exemplar
Visit at age: 10 years
Goldmann Visual Field - Right - 20/80 +2
Exemplar
Goldmann Visual Field - Left - 20/100 +1
Exemplar
Optical Coherence Tomography - Right - 20/80 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/80 +2
Exemplar
Infrared Fundus Photograph - Left - 20/100 +1
Exemplar
Swept-Source OCT - Right - 20/80 +2
Exemplar
Swept-Source OCT - Left - 20/100 +1
Exemplar
Visit at age: 11 years
Goldmann Visual Field - Right - 20/80 +1
Exemplar
Goldmann Visual Field - Left - 20/100
Exemplar
Optical Coherence Tomography - Right - 20/80 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/80 +1
Exemplar
Infrared Fundus Photograph - Left - 20/100
Exemplar
Swept-Source OCT - Right - 20/80 +1
Exemplar
Swept-Source OCT - Left - 20/100
Exemplar
Visit at age: 12 years
Goldmann Visual Field - Right - 20/63
Exemplar
Goldmann Visual Field - Left - 20/100 +1
Exemplar
Optical Coherence Tomography - Right - 20/63
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/63
Exemplar
Infrared Fundus Photograph - Left - 20/100 +1
Exemplar
Swept-Source OCT - Right - 20/63
Exemplar
Swept-Source OCT - Left - 20/100 +1
Exemplar
Visit at age: 14 years
Goldmann Visual Field - Right - 20/80
Exemplar
Goldmann Visual Field - Left - 20/100
Exemplar
Optical Coherence Tomography - Right - 20/80
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/80
Exemplar
Infrared Fundus Photograph - Left - 20/100
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinoschisis | RS1 | Arg141Cys CGC>TGC | XL |