Case
SR2924
Student Mode
Best Disease (IIB)
Male
Male
Hidden
SR2924
Student Mode
Best Disease (IIB)
Male
Male
Visit at age: 64 years
Fundus Photography - Right - 20/30
Exemplar
Fundus Photography - Left - 20/80
Exemplar
Fundus Montage - Right - 20/30
Exemplar
Fundus Montage - Left - 20/80
Exemplar
Optical Coherence Tomography - Right - 20/30
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/30
Exemplar
Infrared Fundus Photograph - Left - 20/80
Exemplar
Blue Autofluorescence - Right - 20/30
Exemplar
Blue Autofluorescence - Left - 20/80
Exemplar
Visit at age: 65 years
Optical Coherence Tomography - Right - 20/30
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/30
Exemplar
Infrared Fundus Photograph - Left - 20/80
Exemplar
Blue Autofluorescence - Right - 20/30
Exemplar
Blue Autofluorescence - Left - 20/80
Exemplar
Visit at age: 65 years (Visit 2)
Optical Coherence Tomography - Right - 20/40 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -2
Exemplar
Infrared Fundus Photograph - Left - 20/100 -1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Best Disease | BEST1 | Ala195Val GCG>GTG | Arg255Trp CGG>TGG | AR |
Disease:
Gene:
Allele 1:
Ala195Val GCG>GTG
Allele 2:
Arg255Trp CGG>TGG
Inheritance:
AR