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StoneRounds Disease Atlas SR488

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SR488

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XL Retinitis Pigmentosa (IA1ai)

Male

Male

SR488

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XL Retinitis Pigmentosa (IA1ai)

Male

Male

Visit at age: 6 years

Fundus Photography - Right - 10/25 +1

Exemplar

Fundus Photography - Left - 10/20

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Fundus Montage - Right - 10/25 +1

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Fundus Montage - Left - 10/20

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Optical Coherence Tomography - Right - 10/25 +1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 10/20

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 10/25 +1

Exemplar

Infrared Fundus Photograph - Left - 10/20

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Visit at age: 8 years

Goldmann Visual Field - Right - 20/50

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Goldmann Visual Field - Left - 20/50

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Optical Coherence Tomography - Right - 20/50

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50

Exemplar

Infrared Fundus Photograph - Left - 20/50

Exemplar

Visit at age: 9 years

Goldmann Visual Field - Right - 20/50

Exemplar

Goldmann Visual Field - Left - 20/50

Exemplar

Optical Coherence Tomography - Right - 20/50

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50

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Infrared Fundus Photograph - Left - 20/50

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Visit at age: 10 years

Fundus Photography - Right - 20/63 +2

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Fundus Photography - Left - 20/50 -2

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Goldmann Visual Field - Right - 20/63 +2

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Goldmann Visual Field - Left - 20/50 -2

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Optical Coherence Tomography - Right - 20/63 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/63 +2

Exemplar

Infrared Fundus Photograph - Left - 20/50 -2

Exemplar

Visit at age: 13 years

Fundus Photography - Right - 20/50 -1

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Fundus Photography - Left - 20/50 -1

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Fundus Montage - Right - 20/50 -1

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Fundus Montage - Left - 20/50 -1

Exemplar

Goldmann Visual Field - Right - 20/50 -1

Exemplar

Goldmann Visual Field - Left - 20/50 -1

Exemplar

Optical Coherence Tomography - Right - 20/50 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50 -1

Exemplar

Infrared Fundus Photograph - Left - 20/50 -1

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinitis Pigmentosa RPGR Met58Lys ATG>AAG   XL
Disease:
XL Retinitis Pigmentosa
Gene:
RPGR
Allele 1:
Met58Lys ATG>AAG
Allele 2:
 
Inheritance:
XL
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