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StoneRounds Disease Atlas SR3012

SR3012

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Retinitis Pigmentosa with Cognitive Impairment (IB11)

Female

Female

SR3012

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Retinitis Pigmentosa with Cognitive Impairment (IB11)

Female

Female

Visit at age: 57 years

Fundus Photography - Right - 20/80 -1

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Exemplar / OCT Stack
OCT Stack

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Visit at age: 59 years

Optical Coherence Tomography - Right - 20/80 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack

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Visit at age: 61 years

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Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/100

Exemplar / OCT Stack
OCT Stack
OCT Stack

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Infrared Fundus Photograph - Left - 20/100

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Visit at age: 64 years

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Exemplar / OCT Stack

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Infrared Fundus Photograph - Left - 20/160 +2

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Visit at age: 66 years

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Exemplar / 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
Retinitis Pigmentosa with Cognitive Impairment HK1 Ser445Leu TCG>TTG   AD
Disease:
Retinitis Pigmentosa with Cognitive Impairment
Gene:
HK1
Allele 1:
Ser445Leu TCG>TTG
Allele 2:
 
Inheritance:
AD
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