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StoneRounds Disease Atlas SR2431

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SR2431

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Retinitis Pigmentosa with Ataxia (IB7)

Male

Male

SR2431

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Retinitis Pigmentosa with Ataxia (IB7)

Male

Male

Visit at age: 64 years

Fundus Photography - Right - 20/25

Exemplar

Fundus Photography - Left - 20/25

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Fundus Montage - Right - 20/25

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Fundus Montage - Left - 20/25

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Goldmann Visual Field - Right - 20/25

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Goldmann Visual Field - Left - 20/25

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Optical Coherence Tomography - Right - 20/25

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25

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Infrared Fundus Photograph - Left - 20/25

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Visit at age: 67 years

Fundus Photography - Right - 20/25 -2

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Fundus Photography - Left - 20/20 -2

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Fundus Montage - Right - 20/25 -2

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Fundus Montage - Left - 20/20 -2

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Goldmann Visual Field - Right - 20/25 -2

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Goldmann Visual Field - Left - 20/20 -2

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Visit at age: 68 years

Fundus Photography - Right - 20/40

Exemplar

Fundus Photography - Left - 20/25

Exemplar

Optical Coherence Tomography - Right - 20/40

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40

Exemplar

Infrared Fundus Photograph - Left - 20/25

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Blue Autofluorescence - Right - 20/40

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Blue Autofluorescence - Left - 20/25

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Green Autofluorescence - Right - 20/40

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Green Autofluorescence - Left - 20/25

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Visit at age: 70 years

Fundus Photography - Right - 20/40

Exemplar

Fundus Photography - Left - 20/25

Exemplar

Goldmann Visual Field - Right - 20/40

Exemplar

Goldmann Visual Field - Left - 20/25

Exemplar

Optical Coherence Tomography - Right - 20/40

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/25

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/40

Exemplar

Infrared Fundus Photograph - Left - 20/25

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Retinitis Pigmentosa with Ataxia ELOVL4 Ile171Thr ATT>ACT   AD
Disease:
Retinitis Pigmentosa with Ataxia
Gene:
ELOVL4
Allele 1:
Ile171Thr ATT>ACT
Allele 2:
 
Inheritance:
AD
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