Case
SR699
Student Mode
Best Disease (IIB)
Male
Male
Hidden
SR699
Student Mode
Best Disease (IIB)
Male
Male
Visit at age: 5 years
Fundus Photography - Right - 20/50 +2 sc
Exemplar
Fundus Photography - Left - 20/25 -3 sc
Exemplar
Visit at age: 12 years
Fundus Photography - Right - 20/30 +2
Exemplar
Fundus Photography - Left - 20/50 +2
Exemplar
Visit at age: 14 years
Fluorescein Angiography - Right - 20/40 +1 sc
Exemplar
Fluorescein Angiography - Left - 20/40 sc
Exemplar
Visit at age: 16 years
Optical Coherence Tomography - Right - 20/40 +2 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/30 sc
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/40 +2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/30 sc
Exemplar
Visit at age: 18 years
Fundus Photography - Right - 20/40 -1 sc
Exemplar
Fundus Photography - Left - 20/30 -1 sc
Exemplar
Optical Coherence Tomography - Right - 20/40 -1 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/30 -1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/30 -1 sc
Exemplar
Visit at age: 21 years
Optical Coherence Tomography - Right - 20/40 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 -3
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -2
Exemplar
Infrared Fundus Photograph - Left - 20/20 -3
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 |