Case
SR419
Student Mode
Best Disease (IIB)
Female
Female
Hidden
SR419
Student Mode
Best Disease (IIB)
Female
Female
Visit at age: 14 years
Fundus Photography - Right - 20/100 sc
Exemplar
Fundus Photography - Left - 20/25 -3 sc
Exemplar
Fundus Montage - Right - 20/100 sc
Exemplar
Fundus Montage - Left - 20/25 -3 sc
Exemplar
Optical Coherence Tomography - Right - 20/100 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -3 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100 sc
Exemplar
Infrared Fundus Photograph - Left - 20/25 -3 sc
Exemplar
Visit at age: 17 years
Optical Coherence Tomography - Right - 20/100 +1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100 +1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/20 sc
Exemplar
Visit at age: 19 years
Fundus Photography - Right - 20/200 sc
Exemplar
Fundus Photography - Left - 20/20 -1 sc
Exemplar
Optical Coherence Tomography - Right - 20/200 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 -1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 sc
Exemplar
Infrared Fundus Photograph - Left - 20/20 -1 sc
Exemplar
Visit at age: 23 years
Optical Coherence Tomography - Right - 20/160 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 -1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/160 sc
Exemplar
Infrared Fundus Photograph - Left - 20/20 -1 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Best Disease | BEST1 | Asp228Glu GAC>GAG | Asn259 ins2aacAA | AR |
Disease:
Gene:
Allele 1:
Asp228Glu GAC>GAG
Allele 2:
Asn259 ins2aacAA
Inheritance:
AR