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StoneRounds Disease Atlas SR1297

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SR1297

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AD Retinitis Pigmentosa (IA1aii)

Female

Female

SR1297

Ladder View Download View

AD Retinitis Pigmentosa (IA1aii)

Female

Female

Visit at age: 55 years

Goldmann Visual Field - Right - 20/20

Exemplar

Goldmann Visual Field - Left - 20/20 -1

Exemplar

Optical Coherence Tomography - Right - 20/20

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20

Exemplar

Infrared Fundus Photograph - Left - 20/20 -1

Exemplar

Visit at age: 57 years

Goldmann Visual Field - Right - 20/20

Exemplar

Goldmann Visual Field - Left - 20/16

Exemplar

Optical Coherence Tomography - Right - 20/20

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/16

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20

Exemplar

Infrared Fundus Photograph - Left - 20/16

Exemplar

Visit at age: 60 years

Fundus Photography - Right - 20/25 -2

Exemplar

Fundus Photography - Left - 20/20 -1

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Fundus Montage - Right - 20/25 -2

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Fundus Montage - Left - 20/20 -1

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Goldmann Visual Field - Right - 20/25 -2

Exemplar

Goldmann Visual Field - Left - 20/20 -1

Exemplar

Optical Coherence Tomography - Right - 20/25 -2

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 -2

Exemplar

Infrared Fundus Photograph - Left - 20/20 -1

Exemplar

Visit at age: 61 years

Goldmann Visual Field - Right - 20/25 -1

Exemplar

Goldmann Visual Field - Left - 20/20

Exemplar

Optical Coherence Tomography - Right - 20/25 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -1

Exemplar

Infrared Fundus Photograph - Left - 20/20

Exemplar

Visit at age: 63 years

Goldmann Visual Field - Right - 20/25 -1

Exemplar

Goldmann Visual Field - Left - 20/25 +2

Exemplar

Optical Coherence Tomography - Right - 20/25 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -1

Exemplar

Infrared Fundus Photograph - Left - 20/25 +2

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Retinitis Pigmentosa RP1 Asp730 del3gACCins2gTA   AD
Disease:
AD Retinitis Pigmentosa
Gene:
RP1
Allele 1:
Asp730 del3gACCins2gTA
Allele 2:
 
Inheritance:
AD
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