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StoneRounds Disease Atlas SR1923

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SR1923

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AD Retinitis Pigmentosa (IA1aii)

Male

Male

SR1923

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AD Retinitis Pigmentosa (IA1aii)

Male

Male

Visit at age: 24 years

Fundus Photography - Right - 20/20 -2

Exemplar

Fundus Photography - Left - 20/30 +2

Exemplar

Fundus Montage - Right - 20/20 -2

Exemplar

Fundus Montage - Left - 20/30 +2

Exemplar

Goldmann Visual Field - Right - 20/20 -2

Exemplar

Goldmann Visual Field - Left - 20/30 +2

Exemplar

Visit at age: 26 years

Goldmann Visual Field - Right - 20/20 -1

Exemplar

Goldmann Visual Field - Left - 20/30 +2

Exemplar

Optical Coherence Tomography - Right - 20/20 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/30 +2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 -1

Exemplar

Infrared Fundus Photograph - Left - 20/30 +2

Exemplar

Visit at age: 34 years

Fundus Photography - Right - 20/16

Exemplar

Fundus Photography - Left - 20/20

Exemplar

Fundus Montage - Right - 20/16

Exemplar

Fundus Montage - Left - 20/20

Exemplar

Goldmann Visual Field - Right - 20/16

Exemplar

Goldmann Visual Field - Left - 20/20

Exemplar

Optical Coherence Tomography - Right - 20/16

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/16

Exemplar

Infrared Fundus Photograph - Left - 20/20

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Retinitis Pigmentosa PRPH2 Pro216Ser CCT>TCT   AD
Disease:
AD Retinitis Pigmentosa
Gene:
PRPH2
Allele 1:
Pro216Ser CCT>TCT
Allele 2:
 
Inheritance:
AD
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