Case
SR650
Student Mode
Best Disease (IIB)
Male
Male
Hidden
SR650
Student Mode
Best Disease (IIB)
Male
Male
Visit at age: 8 years
Fundus Photography - Right - unknown
Exemplar
Fundus Photography - Left - unknown
Exemplar
Visit at age: 9 years
Fundus Photography - Right - unknown
Exemplar
Fundus Photography - Left - unknown
Exemplar
Visit at age: 13 years
Fundus Photography - Right - unknown
Exemplar
Fundus Photography - Left - unknown
Exemplar
Visit at age: 16 years
Fundus Photography - Right - unknown
Exemplar
Fundus Photography - Left - unknown
Exemplar
Visit at age: 18 years
Fundus Photography - Right - unknown
Exemplar
Fundus Photography - Left - unknown
Exemplar
Visit at age: 31 years
Fundus Photography - Right - 20/40 -1
Exemplar
Fundus Photography - Left - 20/20 -2
Exemplar
Fundus Montage - Right - 20/40 -1
Exemplar
Fundus Montage - Left - 20/20 -2
Exemplar
Optical Coherence Tomography - Right - 20/40 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -1
Exemplar
Infrared Fundus Photograph - Left - 20/20 -2
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Best Disease | BEST1 | Gly222Val GGA>GTA | Gly222Val GGA>GTA | AR |
Disease:
Gene:
Allele 1:
Gly222Val GGA>GTA
Allele 2:
Gly222Val GGA>GTA
Inheritance:
AR