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StoneRounds Disease Atlas SR120

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SR120

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AD Retinitis Pigmentosa (IA1aii)

Male

Male

SR120

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AD Retinitis Pigmentosa (IA1aii)

Male

Male

Visit at age: 5 years

Fundus Photography - Right - 20/30 +2

Exemplar

Fundus Photography - Left - 20/40 -2

Exemplar

Visit at age: 8 years

Goldmann Visual Field - Right - 20/50 +2

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Goldmann Visual Field - Left - 20/40

Exemplar

Visit at age: 9 years

Fundus Photography - Right - 20/30 -1

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Fundus Photography - Left - 20/40 -1

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Visit at age: 10 years

Fundus Photography - Right - 20/30 -1

Exemplar

Fundus Photography - Left - 20/40 -2

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Fundus Montage - Right - 20/30 -1

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Visit at age: 11 years

Goldmann Visual Field - Right - 20/40 sc

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Goldmann Visual Field - Left - 20/60 +1 sc

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Visit at age: 12 years

Goldmann Visual Field - Right - 20/40 -1 sc

Exemplar

Goldmann Visual Field - Left - 20/50 -1 sc

Exemplar

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

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/50 -1 sc

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/40 -1 sc

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Infrared Fundus Photograph - Left - 20/50 -1 sc

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Visit at age: 14 years

Fundus Photography - Right - 20/40 -1 sc

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Fundus Photography - Left - 20/50 +1 sc

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Fundus Montage - Right - 20/40 -1 sc

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Fundus Montage - Left - 20/50 +1 sc

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Goldmann Visual Field - Right - 20/40 -1 sc

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Goldmann Visual Field - Left - 20/50 +1 sc

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

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/50 +1 sc

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/40 -1 sc

Exemplar

Infrared Fundus Photograph - Left - 20/50 +1 sc

Exemplar

Visit at age: 14 years (Visit 2)

Optical Coherence Tomography - Right - 20/40 sc

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/40 sc

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/40 sc

Exemplar

Infrared Fundus Photograph - Left - 20/40 sc

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Visit at age: 15 years

Goldmann Visual Field - Right - 20/40 -2 sc

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Goldmann Visual Field - Left - 20/50 -1 sc

Exemplar

Optical Coherence Tomography - Right - 20/40 -2 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 -1 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 -2 sc

Exemplar

Infrared Fundus Photograph - Left - 20/50 -1 sc

Exemplar

Visit at age: 18 years

Goldmann Visual Field - Right - 20/40 sc

Exemplar

Goldmann Visual Field - Left - 20/50 -2 sc

Exemplar

Optical Coherence Tomography - Right - 20/40 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 -2 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 sc

Exemplar

Infrared Fundus Photograph - Left - 20/50 -2 sc

Exemplar

Visit at age: 20 years

Goldmann Visual Field - Right - 20/40 -1 sc

Exemplar

Goldmann Visual Field - Left - 20/40 -1 sc

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

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 -1 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 -1 sc

Exemplar

Infrared Fundus Photograph - Left - 20/40 -1 sc

Exemplar

Visit at age: 23 years

Goldmann Visual Field - Right - 20/32 -1 sc

Exemplar

Goldmann Visual Field - Left - 20/40 -2 sc

Exemplar

Optical Coherence Tomography - Right - 20/32 -1 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 -2 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/32 -1 sc

Exemplar

Infrared Fundus Photograph - Left - 20/40 -2 sc

Exemplar

Visit at age: 27 years

Fundus Photography - Right - 20/40 +2

Exemplar

Fundus Photography - Left - 20/50 -1

Exemplar

Fundus Montage - Right - 20/40 +2

Exemplar

Fundus Montage - Left - 20/50 -1

Exemplar

Goldmann Visual Field - Right - 20/40 +2

Exemplar

Goldmann Visual Field - Left - 20/50 -1

Exemplar

Optical Coherence Tomography - Right - 20/40 +2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 +2

Exemplar

Infrared Fundus Photograph - Left - 20/50 -1

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Retinitis Pigmentosa PRPF8 Glu2322Stop GAG>TAG   AD
Disease:
AD Retinitis Pigmentosa
Gene:
PRPF8
Allele 1:
Glu2322Stop GAG>TAG
Allele 2:
 
Inheritance:
AD
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