Case
SR2550
Student Mode
Wolfram Syndrome (IIIC2a)
Male
Male
Hidden
SR2550
Student Mode
Wolfram Syndrome (IIIC2a)
Male
Male
Visit at age: 26 years
Fundus Photography - Right - 10/160
Exemplar
Fundus Photography - Left - 10/80
Exemplar
Fundus Montage - Right - 10/160
Exemplar
Fundus Montage - Left - 10/80
Exemplar
Goldmann Visual Field - Right - 10/160
Exemplar
Goldmann Visual Field - Left - 10/80
Exemplar
Swept-Source OCT - Right - 10/160
Exemplar
Swept-Source OCT - Left - 10/80
Exemplar
Visit at age: 29 years
Goldmann Visual Field - Right - 10/140
Exemplar
Goldmann Visual Field - Left - 10/80
Exemplar
Optical Coherence Tomography - Right - 10/140
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/80
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/140
Exemplar
Infrared Fundus Photograph - Left - 10/80
Exemplar
Visit at age: 30 years
Fundus Photography - Right - 10/125 -2
Exemplar
Fundus Photography - Left - 10/125 +1
Exemplar
Goldmann Visual Field - Right - 10/125 -2
Exemplar
Goldmann Visual Field - Left - 10/125 +1
Exemplar
Optical Coherence Tomography - Right - 10/125 -2
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 10/125 +1
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 10/125 -2
Exemplar
Infrared Fundus Photograph - Left - 10/125 +1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Wolfram Syndrome | WFS1 | Ala684Val GCG>GTG | AD |