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StoneRounds Disease Atlas SR697

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SR697

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AR Retinitis Pigmentosa (IA1aiii)

Male

Male

SR697

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AR Retinitis Pigmentosa (IA1aiii)

Male

Male

Visit at age: 46 years

Goldmann Visual Field - Right - 20/60 +3

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Goldmann Visual Field - Left - 20/15

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Visit at age: 47 years

Fundus Photography - Right - 20/30 -2

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Fundus Photography - Left - 20/20

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Visit at age: 47 years (Visit 2)

Goldmann Visual Field - Right - 20/200

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Goldmann Visual Field - Left - 20/15 -2

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Visit at age: 48 years

Goldmann Visual Field - Right - 20/100

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Goldmann Visual Field - Left - 20/20 -2

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Visit at age: 50 years

Goldmann Visual Field - Right - 20/100

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Goldmann Visual Field - Left - 20/20

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Visit at age: 51 years

Goldmann Visual Field - Right - 20/100 +1

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Goldmann Visual Field - Left - 20/20

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Visit at age: 53 years

Goldmann Visual Field - Right - 20/80 -1

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Goldmann Visual Field - Left - 20/20

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Visit at age: 57 years

Goldmann Visual Field - Right - 20/200 sc

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Goldmann Visual Field - Left - 20/25 -2

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Visit at age: 58 years

Fundus Photography - Right - Hand Motion 5'

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Fundus Photography - Left - 20/40

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Goldmann Visual Field - Right - Hand Motion 5'

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Goldmann Visual Field - Left - 20/40

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Optical Coherence Tomography - Right - Hand Motion 5'

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Optical Coherence Tomography - Left - 20/40

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - Hand Motion 5'

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Infrared Fundus Photograph - Left - 20/40

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Visit at age: 59 years

Optical Coherence Tomography - Left - 20/40 -2

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OCT Stack

Infrared Fundus Photograph - Left - 20/40 -2

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Visit at age: 61 years

Goldmann Visual Field - Right - Hand Motion 4'

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Goldmann Visual Field - Left - 20/30 +2

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Visit at age: 62 years

Optical Coherence Tomography - Right - Hand Motion 1'

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Hand Motion 1'

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Infrared Fundus Photograph - Left - 20/20 -1

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Visit at age: 63 years

Optical Coherence Tomography - Right - Hand Motion 1' sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 +1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Hand Motion 1' sc

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Infrared Fundus Photograph - Left - 20/25 +1

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Visit at age: 64 years

Fundus Photography - Right - Hand Motion 1'

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Fundus Photography - Left - 20/20 -3

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Fundus Montage - Right - Hand Motion 1'

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Fundus Montage - Left - 20/20 -3

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Optical Coherence Tomography - Right - Hand Motion 1'

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -3

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Hand Motion 1'

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Infrared Fundus Photograph - Left - 20/20 -3

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Visit at age: 65 years

Optical Coherence Tomography - Right - Hand Motion

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 +2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Hand Motion

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Infrared Fundus Photograph - Left - 20/25 +2

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Visit at age: 66 years

Optical Coherence Tomography - Right - Hand Motion

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 +1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Hand Motion

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Infrared Fundus Photograph - Left - 20/40 +1

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Visit at age: 67 years

Fundus Photography - Right - 1/200

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Fundus Photography - Left - 20/32 +1

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Optical Coherence Tomography - Right - 1/200

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32 +1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 1/200

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Infrared Fundus Photograph - Left - 20/32 +1

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Visit at age: 68 years

Fundus Photography - Right - Hand Motion

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Fundus Photography - Left - 20/32

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Optical Coherence Tomography - Right - Hand Motion

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Hand Motion

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Infrared Fundus Photograph - Left - 20/32

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Visit at age: 70 years

Optical Coherence Tomography - Right - Hand Motion sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Hand Motion sc

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Infrared Fundus Photograph - Left - 20/50 +2

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Visit at age: 71 years

Optical Coherence Tomography - Right - Hand Motion sc

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/40 sc

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Infrared Fundus Photograph - Right - Hand Motion sc

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Infrared Fundus Photograph - Left - 20/40 sc

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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 IVS40-2144 A>G Arg4192His CGC>CAC AR
Disease:
AR Retinitis Pigmentosa
Gene:
USH2A
Allele 1:
IVS40-2144 A>G
Allele 2:
Arg4192His CGC>CAC
Inheritance:
AR
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