Case
SR1068
Student Mode
Best Disease (IIB)
Female
Female
Hidden
SR1068
Student Mode
Best Disease (IIB)
Female
Female
Visit at age: 19 years
Fundus Photography - Right - 20/20 -1 sc
Exemplar
Fundus Photography - Left - 20/20 sc
Exemplar
Visit at age: 30 years
Fundus Photography - Right - 20/20 +1
Exemplar
Fundus Photography - Left - 20/20 +1
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Visit at age: 37 years
Fundus Photography - Right - 20/20 -2 sc
Exemplar
Fundus Photography - Left - 20/20 -1 sc
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Fundus Montage - Right - 20/20 -2 sc
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Fundus Montage - Left - 20/20 -1 sc
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Optical Coherence Tomography - Right - 20/20 -2 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 -1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/20 -1 sc
Exemplar
Visit at age: 37 years (Visit 2)
Optical Coherence Tomography - Right - 20/20 -2 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 -1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/20 -1 sc
Exemplar
Visit at age: 41 years
Fundus Photography - Right - 20/12.5
Exemplar
Fundus Photography - Left - 20/20 -1
Exemplar
Optical Coherence Tomography - Right - 20/12.5
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/12.5
Exemplar
Infrared Fundus Photograph - Left - 20/20 -1
Exemplar
Visit at age: 41 years (Visit 2)
Fundus Photography - Right - 20/15 -1 sc
Exemplar
Fundus Photography - Left - 20/25 +3
Exemplar
Optical Coherence Tomography - Right - 20/15 -1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 +3
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/15 -1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/25 +3
Exemplar
Visit at age: 42 years
Fundus Photography - Right - 20/20
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Fundus Photography - Left - 20/25 -2
Exemplar
Fundus Montage - Right - 20/20
Exemplar
Fundus Montage - Left - 20/25 -2
Exemplar
Optical Coherence Tomography - Right - 20/20
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20
Exemplar
Infrared Fundus Photograph - Left - 20/25 -2
Exemplar
Visit at age: 43 years
Fundus Photography - Right - 20/20 -1
Exemplar
Fundus Photography - Left - 20/20 -2
Exemplar
Optical Coherence Tomography - Right - 20/20 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -1
Exemplar
Infrared Fundus Photograph - Left - 20/20 -2
Exemplar
Visit at age: 44 years
Optical Coherence Tomography - Right - 20/20 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 +2
Exemplar
Infrared Fundus Photograph - Left - 20/20 +1
Exemplar
Blue Autofluorescence - Right - 20/20 +2
Exemplar
Blue Autofluorescence - Left - 20/20 +1
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Visit at age: 45 years
Fundus Photography - Right - 20/20
Exemplar
Fundus Photography - Left - 20/20
Exemplar
Optical Coherence Tomography - Right - 20/20
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20
Exemplar
Infrared Fundus Photograph - Left - 20/20
Exemplar
Visit at age: 46 years
Optical Coherence Tomography - Right - 20/25
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25
Exemplar
Infrared Fundus Photograph - Left - 20/40
Exemplar
Visit at age: 46 years (Visit 2)
Optical Coherence Tomography - Right - 20/20 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -2
Exemplar
Infrared Fundus Photograph - Left - 20/50 -1
Exemplar
Visit at age: 47 years
Optical Coherence Tomography - Right - 20/25 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25 -2
Exemplar
Infrared Fundus Photograph - Left - 20/50 -1
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 |