Case
SR479
Student Mode
Alpha Mannosidosis (IB)
Female
Female
Hidden
SR479
Student Mode
Alpha Mannosidosis (IB)
Female
Female
Visit at age: 45 years
Fundus Photography - Right - 20/40 -1
Exemplar
Fundus Photography - Left - 10/300 sc
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Fundus Montage - Right - 20/40 -1
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Fundus Montage - Left - 10/300 sc
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Goldmann Visual Field - Right - 20/40 -1
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Goldmann Visual Field - Left - 10/300 sc
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Optical Coherence Tomography - Right - 20/40 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/300 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -1
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Infrared Fundus Photograph - Left - 10/300 sc
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Visit at age: 46 years
Goldmann Visual Field - Right - 20/150 sc
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Goldmann Visual Field - Left - 20/800 sc
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Optical Coherence Tomography - Right - 20/150 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/800 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/150 sc
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Infrared Fundus Photograph - Left - 20/800 sc
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Visit at age: 46 years (Visit 2)
Goldmann Visual Field - Right - 10/300 sc
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Goldmann Visual Field - Left - 10/600 sc
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Optical Coherence Tomography - Right - 10/300 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/600 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/300 sc
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Infrared Fundus Photograph - Left - 10/600 sc
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Visit at age: 47 years
Fundus Photography - Right - 10/350 sc
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Fundus Photography - Left - 10/400 sc
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Fundus Montage - Right - 10/350 sc
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Fundus Montage - Left - 10/400 sc
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Goldmann Visual Field - Right - 10/350 sc
Exemplar
Goldmann Visual Field - Left - 10/400 sc
Exemplar
Optical Coherence Tomography - Right - 10/350 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/400 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/350 sc
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Infrared Fundus Photograph - Left - 10/400 sc
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Blue Autofluorescence - Right - 10/350 sc
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Blue Autofluorescence - Left - 10/400 sc
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Visit at age: 49 years
Goldmann Visual Field - Right - 20/600 sc
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Goldmann Visual Field - Left - 20/800 sc
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Optical Coherence Tomography - Right - 20/600 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/800 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/600 sc
Exemplar
Infrared Fundus Photograph - Left - 20/800 sc
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Visit at age: 53 years
Goldmann Visual Field - Right - 10/600 sc
Exemplar
Goldmann Visual Field - Left - 5/400 sc
Exemplar
Optical Coherence Tomography - Right - 10/600 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 5/400 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/600 sc
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Infrared Fundus Photograph - Left - 5/400 sc
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Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Alpha Mannosidosis | MAN2B1 | IVS14+1 G>C | Ser103Leu TCG>TTG | AR |
Disease:
Gene:
Allele 1:
IVS14+1 G>C
Allele 2:
Ser103Leu TCG>TTG
Inheritance:
AR