Case
SR816
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR816
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Visit at age: 43 years
Fundus Photography - Right - 20/20 +2
Exemplar
Fundus Photography - Left - 20/20 +2
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Fundus Montage - Right - 20/20 +2
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Fundus Montage - Left - 20/20 +2
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Goldmann Visual Field - Right - 20/20 +2
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Goldmann Visual Field - Left - 20/20 +2
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Optical Coherence Tomography - Right - 20/20 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 +2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 +2
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Infrared Fundus Photograph - Left - 20/20 +2
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Visit at age: 44 years
Goldmann Visual Field - Right - 20/20 -1
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Goldmann Visual Field - Left - 20/20
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Optical Coherence Tomography - Right - 20/20 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -1
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Infrared Fundus Photograph - Left - 20/20
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Visit at age: 47 years
Goldmann Visual Field - Right - 20/20 +2
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Goldmann Visual Field - Left - 20/20
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Optical Coherence Tomography - Right - 20/20 +2
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 +2
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Infrared Fundus Photograph - Left - 20/20
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Visit at age: 51 years
Goldmann Visual Field - Right - 20/16 -1
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Goldmann Visual Field - Left - 20/16
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Optical Coherence Tomography - Right - 20/16 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/16
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/16 -1
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Infrared Fundus Photograph - Left - 20/16
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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 | USH2A | Gly2224Cys GGT>TGT / Glu3448Lys GAA>AAA | Thr4337Met ACG>ATG | AR |
Disease:
Gene:
Allele 1:
Gly2224Cys GGT>TGT / Glu3448Lys GAA>AAA
Allele 2:
Thr4337Met ACG>ATG
Inheritance:
AR