Case
SR2290
Student Mode
Sorsby Fundus Dystrophy (IIH)
Male
Male
Hidden
SR2290
Student Mode
Sorsby Fundus Dystrophy (IIH)
Male
Male
Visit at age: 26 years
Goldmann Visual Field - Right - 20/15 -2
Exemplar
Visit at age: 42 years
Fundus Photography - Right - 20/750
Exemplar
Fundus Photography - Left - 20/200
Exemplar
Visit at age: 65 years
Goldmann Visual Field - Right - Count Fingers 3'
Exemplar
Goldmann Visual Field - Left - Count Fingers 3'
Exemplar
Visit at age: 65 years (Visit 2)
Fundus Photography - Left - Count Fingers 2'
Exemplar
Optical Coherence Tomography - Right - Count Fingers 2'
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Count Fingers 2'
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Count Fingers 2'
Exemplar
Infrared Fundus Photograph - Left - Count Fingers 2'
Exemplar
B-Scan Ultrasonography - Right - Count Fingers 2'
Exemplar
Visit at age: 65 years (Visit 3)
Fundus Photography - Right - Count Fingers 6'
Exemplar
Fundus Photography - Left - Count Fingers 4'
Exemplar
Fundus Montage - Left - Count Fingers 4'
Exemplar
Optical Coherence Tomography - Right - Count Fingers 6'
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Count Fingers 4'
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Count Fingers 6'
Exemplar
Infrared Fundus Photograph - Left - Count Fingers 4'
Exemplar
Visit at age: 66 years
Goldmann Visual Field - Right - 20/250 sc
Exemplar
Goldmann Visual Field - Left - 20/250 sc
Exemplar
Visit at age: 66 years (Visit 2)
Optical Coherence Tomography - Right - 20/200 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/400 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 sc
Exemplar
Infrared Fundus Photograph - Left - 20/400 sc
Exemplar
Visit at age: 67 years
Goldmann Visual Field - Right - Count Fingers 3'
Exemplar
Goldmann Visual Field - Left - 10/160 -2 sc
Exemplar
Visit at age: 67 years (Visit 2)
Optical Coherence Tomography - Right - 20/300 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/200 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/300 sc
Exemplar
Infrared Fundus Photograph - Left - 20/200 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Sorsby Fundus Dystrophy | TIMP3 | Tyr191Cys TAC>TGC | AD |