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StoneRounds Disease Atlas SR130

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SR130

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AR Retinitis Pigmentosa (IA1aiii)

Male

Male

SR130

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AR Retinitis Pigmentosa (IA1aiii)

Male

Male

Visit at age: 65 years

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Visit at age: 66 years

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OCT Stack

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Visit at age: 67 years

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OCT Stack

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OCT Stack

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Visit at age: 68 years

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OCT Stack

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Visit at age: 69 years

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OCT Stack
OCT Stack

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OCT Stack
OCT Stack

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Visit at age: 70 years

Goldmann Visual Field - Right - 20/32 -1

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Goldmann Visual Field - Left - 20/100 +2

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Optical Coherence Tomography - Right - 20/32 -1

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OCT Stack
OCT Stack

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OCT Stack
OCT Stack

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Visit at age: 72 years

Goldmann Visual Field - Right - 20/63 +2

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Goldmann Visual Field - Left - 20/100

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Optical Coherence Tomography - Right - 20/63 +2

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OCT Stack
OCT Stack

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OCT Stack
OCT Stack

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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 IFT172 Ala644Glu GCG>GAG Arg1284Stop CGA>TGA AR
Disease:
AR Retinitis Pigmentosa
Gene:
IFT172
Allele 1:
Ala644Glu GCG>GAG
Allele 2:
Arg1284Stop CGA>TGA
Inheritance:
AR
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