Case
SR1950
Student Mode
XL Retinoschisis (IIIB1)
Male
Male
Hidden
SR1950
Student Mode
XL Retinoschisis (IIIB1)
Male
Male
Visit at age: 3 years
Fundus Photography - Right - Hand Motion
Exemplar
Fundus Photography - Left - 20/100
Exemplar
Visit at age: 3 years (Visit 2)
Fundus Photography - Right - Hand Motion
Exemplar
Fundus Photography - Left - 20/100
Exemplar
Visit at age: 14 years
Fundus Photography - Right - 20/500
Exemplar
Fundus Photography - Left - 20/70 +1
Exemplar
Goldmann Visual Field - Right - 20/500
Exemplar
Goldmann Visual Field - Left - 20/70 +1
Exemplar
Optical Coherence Tomography - Right - 20/500
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/70 +1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/500
Exemplar
Infrared Fundus Photograph - Left - 20/70 +1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinoschisis | RS1 | Ser221 Ins1aG | XL |