Case
SR2317
Student Mode
Best Disease (IIB)
Female
Female
Hidden
SR2317
Student Mode
Best Disease (IIB)
Female
Female
Visit at age: 47 years
Fundus Photography - Right - 20/200 -3
Exemplar
Fundus Photography - Left - 20/63
Exemplar
Goldmann Visual Field - Right - 20/200 -3
Exemplar
Goldmann Visual Field - Left - 20/63
Exemplar
Optical Coherence Tomography - Right - 20/200 -3
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/63
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 -3
Exemplar
Infrared Fundus Photograph - Left - 20/63
Exemplar
Blue Autofluorescence - Right - 20/200 -3
Exemplar
Blue Autofluorescence - Left - 20/63
Exemplar
Visit at age: 49 years
Optical Coherence Tomography - Right - 20/150
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/60
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/150
Exemplar
Infrared Fundus Photograph - Left - 20/60
Exemplar
Visit at age: 50 years
Optical Coherence Tomography - Right - 20/200 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 -2
Exemplar
Infrared Fundus Photograph - Left - 20/50 -1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Best Disease | BEST1 | Thr307Ile ACC>ATC | AD |