Case
SR2416
Student Mode
Best Disease (IIB)
Male
Male
Hidden
SR2416
Student Mode
Best Disease (IIB)
Male
Male
Visit at age: 12 years
Fundus Photography - Right - 20/25 +2
Exemplar
Fundus Photography - Left - 20/25 -1
Exemplar
Visit at age: 23 years
Fundus Photography - Right - 20/30 -2 sc
Exemplar
Fundus Photography - Left - 20/30 +2 sc
Exemplar
Visit at age: 24 years
Fundus Photography - Right - 20/25 -1 sc
Exemplar
Fundus Photography - Left - 20/125 sc
Exemplar
Visit at age: 24 years (Visit 2)
Fundus Photography - Right - 20/25 +1 sc
Exemplar
Fundus Photography - Left - 20/200 sc
Exemplar
Goldmann Visual Field - Right - 20/25 +1 sc
Exemplar
Goldmann Visual Field - Left - 20/200 sc
Exemplar
Visit at age: 24 years (Visit 3)
Fundus Photography - Right - 20/20 -1
Exemplar
Fundus Photography - Left - 20/40 -2
Exemplar
Visit at age: 25 years
Fundus Photography - Right - 20/30 -1 sc
Exemplar
Fundus Photography - Left - 20/30 sc
Exemplar
Visit at age: 28 years
Fundus Photography - Right - 20/20 -3
Exemplar
Fundus Photography - Left - 20/20 -2
Exemplar
Visit at age: 29 years
Fundus Photography - Right - 20/25 -1
Exemplar
Fundus Photography - Left - 20/25 -1
Exemplar
Visit at age: 31 years
Goldmann Visual Field - Right - 20/30 -1
Exemplar
Goldmann Visual Field - Left - 20/30 +1
Exemplar
Visit at age: 45 years
Fundus Photography - Right - 20/40 -1
Exemplar
Fundus Photography - Left - 20/40
Exemplar
Optical Coherence Tomography - Right - 20/40 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -1
Exemplar
Infrared Fundus Photograph - Left - 20/40
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Best Disease | BEST1 | Tyr227Asn TAC>AAC | AD |