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StoneRounds Disease Atlas SR677

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SR677

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AR Retinitis Pigmentosa (IA1aiii)

Male

Male

SR677

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AR Retinitis Pigmentosa (IA1aiii)

Male

Male

Visit at age: 50 years

Fundus Photography - Right - 20/15 -2

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Fundus Photography - Left - 20/15

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Goldmann Visual Field - Right - 20/15 -2

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Goldmann Visual Field - Left - 20/15

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Visit at age: 50 years (Visit 2)

Goldmann Visual Field - Right - 20/15 -2

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Goldmann Visual Field - Left - 20/15

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Visit at age: 54 years

Goldmann Visual Field - Right - 20/20 +1

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Goldmann Visual Field - Left - 20/16

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Visit at age: 58 years

Fundus Photography - Right - 20/16 -2

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Fundus Photography - Left - 20/16 +1

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Fundus Montage - Right - 20/16 -2

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Fundus Montage - Left - 20/16 +1

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Goldmann Visual Field - Right - 20/16 -2

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Goldmann Visual Field - Left - 20/16 +1

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Optical Coherence Tomography - Right - 20/16 -2

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/16 +1

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Infrared Fundus Photograph - Right - 20/16 -2

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Infrared Fundus Photograph - Left - 20/16 +1

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Visit at age: 65 years

Fundus Photography - Right - 20/20 +1

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Fundus Photography - Left - 20/25 +1

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Fundus Montage - Right - 20/20 +1

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Fundus Montage - Left - 20/25 +1

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Goldmann Visual Field - Right - 20/20 +1

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Goldmann Visual Field - Left - 20/25 +1

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Optical Coherence Tomography - Right - 20/20 +1

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 - 20/20 +1

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Infrared Fundus Photograph - Left - 20/25 +1

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Visit at age: 67 years

Goldmann Visual Field - Right - 20/20 -2

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Goldmann Visual Field - Left - 20/20

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Optical Coherence Tomography - Right - 20/20 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20

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OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 -2

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Infrared Fundus Photograph - Left - 20/20

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Visit at age: 70 years

Goldmann Visual Field - Right - 20/20 -1

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Goldmann Visual Field - Left - 20/20

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Optical Coherence Tomography - Right - 20/20 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 -1

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Infrared Fundus Photograph - Left - 20/20

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Visit at age: 71 years

Optical Coherence Tomography - Right - 20/30

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/30

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Infrared Fundus Photograph - Left - 20/25 -1

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Visit at age: 71 years (Visit 2)

Optical Coherence Tomography - Right - 20/30 -1 sc

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/20 sc

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/30 -1 sc

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Infrared Fundus Photograph - Left - 20/20 sc

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Visit at age: 71 years (Visit 3)

Optical Coherence Tomography - Right - 20/25 -2 sc

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/25 sc

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/25 -2 sc

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Infrared Fundus Photograph - Left - 20/25 sc

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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 MAK Lys429 insAlu_353bp Lys429 insAlu_353bp AR
Disease:
AR Retinitis Pigmentosa
Gene:
MAK
Allele 1:
Lys429 insAlu_353bp
Allele 2:
Lys429 insAlu_353bp
Inheritance:
AR
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