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StoneRounds Disease Atlas SR123

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SR123

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AR Retinitis Pigmentosa (IA1aiii)

Male

Male

SR123

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AR Retinitis Pigmentosa (IA1aiii)

Male

Male

Visit at age: 46 years

Fundus Photography - Right - 20/40 +1

Exemplar

Fundus Photography - Left - 20/30 -1

Exemplar

Visit at age: 51 years

Goldmann Visual Field - Right - 20/50 -1

Exemplar

Goldmann Visual Field - Left - 20/40 -1

Exemplar

Optical Coherence Tomography - Right - 20/50 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50 -1

Exemplar

Infrared Fundus Photograph - Left - 20/40 -1

Exemplar

Visit at age: 57 years

Fundus Photography - Right - 20/50

Exemplar

Fundus Photography - Left - 20/50 +1

Exemplar

Fundus Montage - Right - 20/50

Exemplar

Fundus Montage - Left - 20/50 +1

Exemplar

Optical Coherence Tomography - Right - 20/50

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50

Exemplar

Infrared Fundus Photograph - Left - 20/50 +1

Exemplar

Visit at age: 60 years

Goldmann Visual Field - Right - 20/63 -1

Exemplar

Goldmann Visual Field - Left - 20/63

Exemplar

Optical Coherence Tomography - Right - 20/63 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/63

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/63 -1

Exemplar

Infrared Fundus Photograph - Left - 20/63

Exemplar

Blue Autofluorescence - Right - 20/63 -1

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Blue Autofluorescence - Left - 20/63

Exemplar

Visit at age: 63 years

Optical Coherence Tomography - Right - 20/63

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/63

Exemplar

Infrared Fundus Photograph - Left - 20/40 -2

Exemplar

Blue Autofluorescence - Right - 20/63

Exemplar

Blue Autofluorescence - Left - 20/40 -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 SLC24A1 Met252 del2ggaAT Leu1052 del2ctTC AR
Disease:
AR Retinitis Pigmentosa
Gene:
SLC24A1
Allele 1:
Met252 del2ggaAT
Allele 2:
Leu1052 del2ctTC
Inheritance:
AR
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