Case
SR518
Student Mode
Best Disease (IIB)
Female
Female
Hidden
SR518
Student Mode
Best Disease (IIB)
Female
Female
Visit at age: 3 years
Fundus Photography - Right - 20/40
Exemplar
Fundus Photography - Left - 20/40
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Optical Coherence Tomography - Right - 20/40
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40
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Infrared Fundus Photograph - Left - 20/40
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Visit at age: 4 years
Fundus Photography - Right - 20/40
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Fundus Photography - Left - 20/40
Exemplar
Optical Coherence Tomography - Right - 20/40
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40
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Infrared Fundus Photograph - Left - 20/40
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Visit at age: 4 years (Visit 2)
Fundus Photography - Right - 20/32
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Fundus Photography - Left - 20/32
Exemplar
Optical Coherence Tomography - Right - 20/32
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32
Exemplar
Infrared Fundus Photograph - Left - 20/32
Exemplar
Visit at age: 5 years
Optical Coherence Tomography - Right - 20/40
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40
Exemplar
Infrared Fundus Photograph - Left - 20/40
Exemplar
Visit at age: 6 years
Optical Coherence Tomography - Right - 20/40 +1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 +1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 +1
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Infrared Fundus Photograph - Left - 20/40 +1
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Blue Autofluorescence - Right - 20/40 +1
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Blue Autofluorescence - Left - 20/40 +1
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Visit at age: 7 years
Fundus Photography - Right - 20/40 +2
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Fundus Photography - Left - 20/40 +2
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Fundus Montage - Right - 20/40 +2
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Fundus Montage - Left - 20/40 +2
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Optical Coherence Tomography - Right - 20/40 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 +2
Exemplar
Infrared Fundus Photograph - Left - 20/40 +2
Exemplar
Blue Autofluorescence - Right - 20/40 +2
Exemplar
Blue Autofluorescence - Left - 20/40 +2
Exemplar
Visit at age: 8 years
Fundus Photography - Right - 20/25 -1
Exemplar
Fundus Photography - Left - 20/32
Exemplar
Optical Coherence Tomography - Right - 20/25 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25 -1
Exemplar
Infrared Fundus Photograph - Left - 20/32
Exemplar
Visit at age: 13 years
Optical Coherence Tomography - Right - 20/20 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -2
Exemplar
Infrared Fundus Photograph - Left - 20/25
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Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Best Disease | BEST1 | Gly34Gly GGC>GGT | Ile295Leu ATC>CTC | AR |
Disease:
Gene:
Allele 1:
Gly34Gly GGC>GGT
Allele 2:
Ile295Leu ATC>CTC
Inheritance:
AR