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StoneRounds Disease Atlas SR751

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SR751

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AR Retinitis Pigmentosa (IA1aiii)

Male

Male

SR751

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AR Retinitis Pigmentosa (IA1aiii)

Male

Male

Visit at age: 18 years

Fundus Photography - Right - 20/32 -1

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Goldmann Visual Field - Right - 20/32 -1

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Goldmann Visual Field - Left - 20/32 -2

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Optical Coherence Tomography - Right - 20/32 -1

Exemplar / OCT Stack
OCT Stack

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OCT Stack

Infrared Fundus Photograph - Right - 20/32 -1

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Visit at age: 19 years

Goldmann Visual Field - Right - 20/25

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Optical Coherence Tomography - Right - 20/25

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25

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Visit at age: 20 years

Goldmann Visual Field - Right - 20/25 -2

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Goldmann Visual Field - Left - 20/25 +1

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Optical Coherence Tomography - Right - 20/25 -2

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 - 20/25 -2

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Infrared Fundus Photograph - Left - 20/25 +1

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Visit at age: 21 years

Goldmann Visual Field - Right - 20/25 +1

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Goldmann Visual Field - Left - 20/25 +2

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Optical Coherence Tomography - Right - 20/25 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 +1

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Infrared Fundus Photograph - Left - 20/25 +2

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Visit at age: 22 years

Goldmann Visual Field - Right - 20/25 -2

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Goldmann Visual Field - Left - 20/25 +3

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Optical Coherence Tomography - Right - 20/25 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 +3

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -2

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Infrared Fundus Photograph - Left - 20/25 +3

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Visit at age: 24 years

Goldmann Visual Field - Right - 20/25

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Goldmann Visual Field - Left - 20/20

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Optical Coherence Tomography - Right - 20/25

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25

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Infrared Fundus Photograph - Left - 20/20

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Visit at age: 27 years

Optical Coherence Tomography - Right - 20/25 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25

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OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -1

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Infrared Fundus Photograph - Left - 20/25

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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 Arg523Stop CGA>TGA AR
Disease:
AR Retinitis Pigmentosa
Gene:
FAM161A
Allele 1:
Arg437Stop AGA>TGA
Allele 2:
Arg523Stop CGA>TGA
Inheritance:
AR
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