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StoneRounds Disease Atlas SR1832

SR1832

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AR Retinitis Pigmentosa (IA1aiii)

Male

Male

SR1832

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AR Retinitis Pigmentosa (IA1aiii)

Male

Male

Visit at age: 59 years

Fundus Photography - Right - 20/32 -1

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Fundus Photography - Left - 20/25

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Fundus Montage - Right - 20/32 -1

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Fundus Montage - Left - 20/25

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Goldmann Visual Field - Right - 20/32 -1

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Goldmann Visual Field - Left - 20/25

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Optical Coherence Tomography - Right - 20/32 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/32 -1

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Infrared Fundus Photograph - Left - 20/25

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Visit at age: 59 years (Visit 2)

Optical Coherence Tomography - Right - 20/40 -2

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 -2

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Infrared Fundus Photograph - Left - 20/30 -2

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Visit at age: 61 years

Goldmann Visual Field - Right - 20/40 +1

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Goldmann Visual Field - Left - 20/25 -1

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Optical Coherence Tomography - Right - 20/40 +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 - 20/40 +1

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Infrared Fundus Photograph - Left - 20/25 -1

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Visit at age: 63 years

Goldmann Visual Field - Right - 20/50

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Goldmann Visual Field - Left - 20/30 -2

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Optical Coherence Tomography - Right - 20/50

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/30 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50

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Infrared Fundus Photograph - Left - 20/30 -2

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Blue Autofluorescence - Right - 20/50

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Blue Autofluorescence - Left - 20/30 -2

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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 CRB1 Asp165 del9cagGATGGAATT Gly850Val GGC>GTC AR
Disease:
AR Retinitis Pigmentosa
Gene:
CRB1
Allele 1:
Asp165 del9cagGATGGAATT
Allele 2:
Gly850Val GGC>GTC
Inheritance:
AR
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