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StoneRounds Disease Atlas SR739

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SR739

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AR Retinitis Pigmentosa (IA1aiii)

Male

Male

SR739

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AR Retinitis Pigmentosa (IA1aiii)

Male

Male

Visit at age: 29 years

Fundus Photography - Right - 20/60 +1

Exemplar

Fundus Photography - Left - 20/60

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Goldmann Visual Field - Right - 20/60 +1

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Goldmann Visual Field - Left - 20/60

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Visit at age: 32 years

Fundus Photography - Right - 20/60 -2

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Fundus Photography - Left - 20/60 -1

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Visit at age: 33 years

Fundus Photography - Right - 20/100 +1

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Fundus Photography - Left - 20/70 -1

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Visit at age: 33 years (Visit 2)

Goldmann Visual Field - Right - 20/125

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Goldmann Visual Field - Left - 20/100

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Visit at age: 34 years

Goldmann Visual Field - Right - 20/100

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Goldmann Visual Field - Left - 20/80 +1

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Visit at age: 35 years

Optical Coherence Tomography - Right - 20/100 +1

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/70

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/100 +1

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Infrared Fundus Photograph - Left - 20/70

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Visit at age: 36 years

Goldmann Visual Field - Right - 20/80

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Goldmann Visual Field - Left - 20/70 +1

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Optical Coherence Tomography - Right - 20/80

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/70 +1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80

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Infrared Fundus Photograph - Left - 20/70 +1

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Visit at age: 38 years

Optical Coherence Tomography - Right - 20/70

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/70

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/70

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Infrared Fundus Photograph - Left - 20/70

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Visit at age: 41 years

Goldmann Visual Field - Right - 20/150

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Goldmann Visual Field - Left - 20/100 +1

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Optical Coherence Tomography - Right - 20/150

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/100 +1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/150

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Infrared Fundus Photograph - Left - 20/100 +1

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Visit at age: 42 years

Fundus Photography - Right - 20/100 -1

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Fundus Photography - Left - Hand Motion

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Optical Coherence Tomography - Right - 20/100 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Hand Motion

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/100 -1

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Infrared Fundus Photograph - Left - Hand Motion

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Visit at age: 42 years (Visit 2)

Optical Coherence Tomography - Right - 20/80

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/60 +2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80

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Infrared Fundus Photograph - Left - 20/60 +2

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Visit at age: 42 years (Visit 3)

Optical Coherence Tomography - Right - Hand Motion

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/70 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Hand Motion

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Infrared Fundus Photograph - Left - 20/70 sc

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Visit at age: 43 years

Optical Coherence Tomography - Left - 20/50

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Left - 20/50

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Visit at age: 43 years (Visit 2)

Optical Coherence Tomography - Right - 20/70 +1 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/70 -1 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/70 +1 sc

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Infrared Fundus Photograph - Left - 20/70 -1 sc

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Visit at age: 44 years

Goldmann Visual Field - Right - 20/80 +2 sc

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Goldmann Visual Field - Left - 20/63 -1 sc

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Optical Coherence Tomography - Right - 20/80 +2 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/63 -1 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80 +2 sc

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Infrared Fundus Photograph - Left - 20/63 -1 sc

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Visit at age: 46 years

Goldmann Visual Field - Right - 20/63 -2

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Goldmann Visual Field - Left - 20/50 -2

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Optical Coherence Tomography - Right - 20/63 -2

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 - 20/63 -2

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Infrared Fundus Photograph - Left - 20/50 -2

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Visit at age: 49 years

Goldmann Visual Field - Right - 20/100

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Goldmann Visual Field - Left - 20/63 -2

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Optical Coherence Tomography - Right - 20/100

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/63 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/100

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Infrared Fundus Photograph - Left - 20/63 -2

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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 FAM161A Arg437Stop AGA>TGA Arg437Stop AGA>TGA AR
Disease:
AR Retinitis Pigmentosa
Gene:
FAM161A
Allele 1:
Arg437Stop AGA>TGA
Allele 2:
Arg437Stop AGA>TGA
Inheritance:
AR
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