Case
SR1745
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR1745
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Visit at age: 47 years
Fundus Photography - Right - 20/32
Exemplar
Fundus Photography - Left - 20/50 -1
Exemplar
Fundus Montage - Right - 20/32
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Fundus Montage - Left - 20/50 -1
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Goldmann Visual Field - Right - 20/32
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Goldmann Visual Field - Left - 20/50 -1
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Optical Coherence Tomography - Right - 20/32
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32
Exemplar
Infrared Fundus Photograph - Left - 20/50 -1
Exemplar
Visit at age: 48 years
Goldmann Visual Field - Right - 20/32 -1
Exemplar
Goldmann Visual Field - Left - 20/32
Exemplar
Optical Coherence Tomography - Right - 20/32 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 -1
Exemplar
Infrared Fundus Photograph - Left - 20/32
Exemplar
Visit at age: 52 years
Goldmann Visual Field - Right - 20/32 -2
Exemplar
Goldmann Visual Field - Left - 20/50 -1
Exemplar
Optical Coherence Tomography - Right - 20/32 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 -2
Exemplar
Infrared Fundus Photograph - Left - 20/50 -1
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Blue Autofluorescence - Right - 20/32 -2
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Blue Autofluorescence - Left - 20/50 -1
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Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | EYS | Cys2139Tyr TGT>TAT | Glu2703Stop GAG>TAG | AR |
Disease:
Gene:
Allele 1:
Cys2139Tyr TGT>TAT
Allele 2:
Glu2703Stop GAG>TAG
Inheritance:
AR