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StoneRounds Disease Atlas SR1856

SR1856

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AR Retinitis Pigmentosa (IA1aiii)

Female

Female

SR1856

Ladder View Download View

AR Retinitis Pigmentosa (IA1aiii)

Female

Female

Visit at age: 16 years

Fundus Photography - Right - 20/25

Exemplar

Fundus Photography - Left - 20/20 -1

Exemplar

Fundus Montage - Right - 20/25

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Fundus Montage - Left - 20/20 -1

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Goldmann Visual Field - Right - 20/25

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Goldmann Visual Field - Left - 20/20 -1

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Optical Coherence Tomography - Right - 20/25

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25

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Infrared Fundus Photograph - Left - 20/20 -1

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Blue Autofluorescence - Right - 20/25

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Blue Autofluorescence - Left - 20/20 -1

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Visit at age: 17 years

Goldmann Visual Field - Right - 20/25 -2

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Goldmann Visual Field - Left - 20/20 -2

Exemplar

Optical Coherence Tomography - Right - 20/25 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -2

Exemplar

Infrared Fundus Photograph - Left - 20/20 -2

Exemplar

Visit at age: 18 years

Goldmann Visual Field - Right - 20/25 -1

Exemplar

Goldmann Visual Field - Left - 20/25 -1

Exemplar

Optical Coherence Tomography - Right - 20/25 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -1

Exemplar

Infrared Fundus Photograph - Left - 20/25 -1

Exemplar

Visit at age: 19 years

Goldmann Visual Field - Right - 20/32 -2

Exemplar

Goldmann Visual Field - Left - 20/25 -1

Exemplar

Optical Coherence Tomography - Right - 20/32 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/32 -2

Exemplar

Infrared Fundus Photograph - Left - 20/25 -1

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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 CNGA1 Arg514Stop CGA>TGA Leu637Arg CTG>CGG AR
Disease:
AR Retinitis Pigmentosa
Gene:
CNGA1
Allele 1:
Arg514Stop CGA>TGA
Allele 2:
Leu637Arg CTG>CGG
Inheritance:
AR
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