Case
SR2809
Student Mode
Best Disease (IIB)
Male
Male
Hidden
SR2809
Student Mode
Best Disease (IIB)
Male
Male
Visit at age: 47 years
Fundus Photography - Right - 20/63
Exemplar
Fundus Photography - Left - 20/100 +2
Exemplar
Fundus Montage - Right - 20/63
Exemplar
Fundus Montage - Left - 20/100 +2
Exemplar
Goldmann Visual Field - Right - 20/63
Exemplar
Goldmann Visual Field - Left - 20/100 +2
Exemplar
Optical Coherence Tomography - Right - 20/63
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100 +2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/63
Exemplar
Infrared Fundus Photograph - Left - 20/100 +2
Exemplar
Blue Autofluorescence - Right - 20/63
Exemplar
Blue Autofluorescence - Left - 20/100 +2
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