Case
SR354
Student Mode
Best Disease (IIB)
Female
Female
Hidden
SR354
Student Mode
Best Disease (IIB)
Female
Female
Visit at age: 47 years
Fundus Photography - Right - 20/63 -3
Exemplar
Fundus Photography - Left - 20/20
Exemplar
Optical Coherence Tomography - Right - 20/63 -3
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/63 -3
Exemplar
Infrared Fundus Photograph - Left - 20/20
Exemplar
Visit at age: 51 years
Fundus Photography - Right - 20/100 -2
Exemplar
Fundus Photography - Left - 20/32 -1
Exemplar
Fundus Montage - Right - 20/100 -2
Exemplar
Fundus Montage - Left - 20/32 -1
Exemplar
Optical Coherence Tomography - Right - 20/100 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100 -2
Exemplar
Infrared Fundus Photograph - Left - 20/32 -1
Exemplar
Case Level Images
Diagnosis & molecular findings
Disease |
Gene |
Allele 1 variant(s) |
Allele 2 variant(s) |
Inheritance mode |
Best Disease |
BEST1 |
Glu300Asp GAG>GAC |
|
AD |
Allele 1:
Glu300Asp GAG>GAC