SR2843
Best Disease (IIB)
Male
Male
SR2843
Best Disease (IIB)
Male
Male
Visit at age: 5 years
Fundus Photography - Right - 20/20 -2 sc
Exemplar
Fundus Photography - Left - 20/20 -3 sc
Exemplar
Visit at age: 6 years
Fundus Photography - Right - 20/20 -2
Exemplar
Fundus Photography - Left - 20/20 -2
Exemplar
Visit at age: 14 years
Fundus Photography - Right - 20/20 -1 sc
Exemplar
Fundus Photography - Left - 20/20 sc
Exemplar
Visit at age: 16 years
Fundus Photography - Right - 20/15
Exemplar
Fundus Photography - Left - 20/15 -1
Exemplar
Visit at age: 24 years
Fundus Photography - Right - 20/15 -2
Exemplar
Fundus Photography - Left - 20/15 -1
Exemplar
Visit at age: 28 years
Fundus Photography - Right - 20/20
Exemplar
Fundus Photography - Left - 20/15
Exemplar
Fundus Montage - Right - 20/20
Exemplar
Fundus Montage - Left - 20/15
Exemplar
Optical Coherence Tomography - Right - 20/20
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/15
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20
Exemplar
Infrared Fundus Photograph - Left - 20/15
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 | AD |