Case
SR2389
Student Mode
Batten Disease (IB3)
Male
Male
Hidden
SR2389
Student Mode
Batten Disease (IB3)
Male
Male
Visit at age: 7 years
Fundus Photography - Right - 20/100 -1 sc
Exemplar
Fundus Photography - Left - 20/100 -2 sc
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Goldmann Visual Field - Right - 20/100 -1 sc
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Goldmann Visual Field - Left - 20/100 -2 sc
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Optical Coherence Tomography - Right - 20/100 -1 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100 -2 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100 -1 sc
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Infrared Fundus Photograph - Left - 20/100 -2 sc
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Blue Autofluorescence - Right - 20/100 -1 sc
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Blue Autofluorescence - Left - 20/100 -2 sc
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Visit at age: 8 years
Fundus Photography - Right - 20/125 +1 sc
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Fundus Photography - Left - 20/125 -1 sc
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Goldmann Visual Field - Right - 20/125 +1 sc
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Goldmann Visual Field - Left - 20/125 -1 sc
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Optical Coherence Tomography - Right - 20/125 +1 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125 -1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 +1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/125 -1 sc
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Visit at age: 8 years (Visit 2)
Goldmann Visual Field - Right - 20/200 +2
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Goldmann Visual Field - Left - 20/200 +2
Exemplar
Optical Coherence Tomography - Right - 20/200 +2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/200 +2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 +2
Exemplar
Infrared Fundus Photograph - Left - 20/200 +2
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Visit at age: 9 years
Fundus Photography - Right - 10/200 sc
Exemplar
Fundus Photography - Left - 10/200 sc
Exemplar
Optical Coherence Tomography - Right - 10/200 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/200 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/200 sc
Exemplar
Infrared Fundus Photograph - Left - 10/200 sc
Exemplar
Visit at age: 9 years (Visit 2)
Goldmann Visual Field - Right - 10/200 -2 sc
Exemplar
Goldmann Visual Field - Left - 10/200 sc
Exemplar
Optical Coherence Tomography - Right - 10/200 -2 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/200 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/200 -2 sc
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Infrared Fundus Photograph - Left - 10/200 sc
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Visit at age: 10 years
Goldmann Visual Field - Right - 10/300 sc
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Goldmann Visual Field - Left - 10/300 sc
Exemplar
Optical Coherence Tomography - Right - 10/300 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/300 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/300 sc
Exemplar
Infrared Fundus Photograph - Left - 10/300 sc
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Visit at age: 10 years (Visit 2)
Fundus Photography - Right - 10/300 sc
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Fundus Photography - Left - 10/300 sc
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Fundus Montage - Right - 10/300 sc
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Fundus Montage - Left - 10/300 sc
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Goldmann Visual Field - Right - 10/300 sc
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Goldmann Visual Field - Left - 10/300 sc
Exemplar
Optical Coherence Tomography - Right - 10/300 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/300 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/300 sc
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Infrared Fundus Photograph - Left - 10/300 sc
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Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Batten Disease | CLN3 | Deletion Exons 9-10 | IVS6-23del4tCTCA | AR |
Disease:
Gene:
Allele 1:
Deletion Exons 9-10
Allele 2:
IVS6-23del4tCTCA
Inheritance:
AR