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StoneRounds Disease Atlas SR190

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SR190

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AD Retinitis Pigmentosa (IA1aii)

Female

Female

SR190

Ladder View Download View

AD Retinitis Pigmentosa (IA1aii)

Female

Female

Visit at age: 53 years

Fundus Photography - Right - 20/25

Exemplar

Fundus Photography - Left - 20/70 +1

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Fundus Montage - Right - 20/25

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Fundus Montage - Left - 20/70 +1

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Optical Coherence Tomography - Right - 20/25

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/70 +1

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/25

Exemplar

Infrared Fundus Photograph - Left - 20/70 +1

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Visit at age: 55 years

Goldmann Visual Field - Right - 20/30

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Goldmann Visual Field - Left - 20/70 -1

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Visit at age: 57 years

Goldmann Visual Field - Right - 20/30

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Goldmann Visual Field - Left - 20/100

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Optical Coherence Tomography - Right - 20/30

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/100

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/30

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Infrared Fundus Photograph - Left - 20/100

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Visit at age: 60 years

Goldmann Visual Field - Right - 20/40 +2

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Goldmann Visual Field - Left - 20/100 +1

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Optical Coherence Tomography - Right - 20/40 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/100 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 +2

Exemplar

Infrared Fundus Photograph - Left - 20/100 +1

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Visit at age: 60 years (Visit 2)

Optical Coherence Tomography - Left - 20/30

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Left - 20/30

Exemplar

Visit at age: 60 years (Visit 3)

Optical Coherence Tomography - Right - 20/40

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/30 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40

Exemplar

Infrared Fundus Photograph - Left - 20/30 +2

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Visit at age: 60 years (Visit 4)

Optical Coherence Tomography - Right - 20/25

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/30

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25

Exemplar

Infrared Fundus Photograph - Left - 20/30

Exemplar

Visit at age: 62 years

Goldmann Visual Field - Right - 20/40 -1

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Goldmann Visual Field - Left - 20/40 +2

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Optical Coherence Tomography - Right - 20/40 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 -1

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Infrared Fundus Photograph - Left - 20/40 +2

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Visit at age: 63 years

Goldmann Visual Field - Right - 20/40

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Goldmann Visual Field - Left - 20/40 -1

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Optical Coherence Tomography - Right - 20/40

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40

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Infrared Fundus Photograph - Left - 20/40 -1

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Visit at age: 65 years

Goldmann Visual Field - Right - 20/40

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Goldmann Visual Field - Left - 20/32 -1

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Optical Coherence Tomography - Right - 20/40

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40

Exemplar

Infrared Fundus Photograph - Left - 20/32 -1

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Visit at age: 67 years

Goldmann Visual Field - Right - 20/50 +2

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Goldmann Visual Field - Left - 20/50

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Optical Coherence Tomography - Right - 20/50 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50 +2

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Infrared Fundus Photograph - Left - 20/50

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Retinitis Pigmentosa PRPH2 Pro216Ser CCT>TCT   AD
Disease:
AD Retinitis Pigmentosa
Gene:
PRPH2
Allele 1:
Pro216Ser CCT>TCT
Allele 2:
 
Inheritance:
AD
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