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StoneRounds Disease Atlas SR1987

SR1987

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AD Retinitis Pigmentosa (IA1aii)

Female

Female

SR1987

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AD Retinitis Pigmentosa (IA1aii)

Female

Female

Visit at age: 67 years

Fundus Photography - Right - 20/60 -2

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Fundus Photography - Left - 20/125

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Optical Coherence Tomography - Right - 20/60 -2

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Optical Coherence Tomography - Left - 20/125

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Infrared Fundus Photograph - Right - 20/60 -2

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Infrared Fundus Photograph - Left - 20/125

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Visit at age: 69 years

Fundus Photography - Right - 20/80

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Fundus Photography - Left - 20/80

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Optical Coherence Tomography - Right - 20/80

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Optical Coherence Tomography - Left - 20/80

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/80

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Infrared Fundus Photograph - Left - 20/80

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Visit at age: 69 years (Visit 2)

Goldmann Visual Field - Right - 10/40

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Goldmann Visual Field - Left - 10/40 -2

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Visit at age: 72 years

Optical Coherence Tomography - Right - 20/160 -1

Exemplar / OCT Stack
OCT Stack

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Exemplar / OCT Stack
OCT Stack

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Visit at age: 73 years

Optical Coherence Tomography - Right - <10/200

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - <10/200

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OCT Stack

Infrared Fundus Photograph - Right - <10/200

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Infrared Fundus Photograph - Left - <10/200

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Visit at age: 74 years

Optical Coherence Tomography - Right - Light Perception

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Light Perception

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Light Perception

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Infrared Fundus Photograph - Left - Light Perception

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Visit at age: 75 years

Optical Coherence Tomography - Right - Light Perception

Exemplar / OCT Stack

Optical Coherence Tomography - Left - Light Perception

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - Light Perception

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Infrared Fundus Photograph - Left - Light Perception

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Visit at age: 78 years

Optical Coherence Tomography - Right - Light Perception

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Light Perception

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Light Perception

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Infrared Fundus Photograph - Left - Light Perception

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Visit at age: 81 years

Fundus Photography - Right - Light Perception

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Fundus Photography - Left - Light Perception

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Fundus Montage - Right - Light Perception

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Fundus Montage - Left - Light Perception

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Optical Coherence Tomography - Right - Light Perception

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Light Perception

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Light Perception

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Infrared Fundus Photograph - Left - Light Perception

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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 RHO Pro23His CCC>CAC   AD
Disease:
AD Retinitis Pigmentosa
Gene:
RHO
Allele 1:
Pro23His CCC>CAC
Allele 2:
 
Inheritance:
AD
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