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StoneRounds Disease Atlas SR182

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SR182

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AD Retinitis Pigmentosa (IA1aii)

Male

Male

SR182

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AD Retinitis Pigmentosa (IA1aii)

Male

Male

Visit at age: 22 years

Fundus Photography - Right - 20/25 -2

Exemplar

Fundus Photography - Left - 20/25 -1

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Fundus Montage - Right - 20/25 -2

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Fundus Montage - Left - 20/25 -1

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Goldmann Visual Field - Right - 20/25 -2

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Goldmann Visual Field - Left - 20/25 -1

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Visit at age: 24 years

Goldmann Visual Field - Right - 20/30 +1

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Goldmann Visual Field - Left - 20/40 +3

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Visit at age: 26 years

Goldmann Visual Field - Right - 20/32

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Goldmann Visual Field - Left - 20/32

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Optical Coherence Tomography - Right - 20/32

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/32

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/32

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Infrared Fundus Photograph - Left - 20/32

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Visit at age: 28 years

Goldmann Visual Field - Right - 20/25 -2

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Goldmann Visual Field - Left - 20/32 -1

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Visit at age: 30 years

Fundus Photography - Right - 20/25 -2

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Fundus Photography - Left - 20/20 -2

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Fundus Montage - Right - 20/25 -2

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Fundus Montage - Left - 20/20 -2

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Goldmann Visual Field - Right - 20/25 -2

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Goldmann Visual Field - Left - 20/20 -2

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Optical Coherence Tomography - Right - 20/25 -2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -2

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Infrared Fundus Photograph - Left - 20/20 -2

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Visit at age: 32 years

Goldmann Visual Field - Right - 20/40 -2

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Goldmann Visual Field - Left - 20/25

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Optical Coherence Tomography - Right - 20/40 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 -2

Exemplar

Infrared Fundus Photograph - Left - 20/25

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Visit at age: 35 years

Goldmann Visual Field - Right - 20/32

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Goldmann Visual Field - Left - 20/25 -1

Exemplar

Optical Coherence Tomography - Right - 20/32

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/32

Exemplar

Infrared Fundus Photograph - Left - 20/25 -1

Exemplar

Visit at age: 39 years

Goldmann Visual Field - Right - 20/40 -1

Exemplar

Goldmann Visual Field - Left - 20/40

Exemplar

Optical Coherence Tomography - Right - 20/40 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 -1

Exemplar

Infrared Fundus Photograph - Left - 20/40

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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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