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StoneRounds Disease Atlas SR3065

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SR3065

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AD Retinitis Pigmentosa (IA1aii)

Female

Female

SR3065

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AD Retinitis Pigmentosa (IA1aii)

Female

Female

Visit at age: 63 years

Fundus Photography - Right - 20/25

Exemplar

Fundus Photography - Left - 20/32

Exemplar

Fundus Montage - Right - 20/25

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Fundus Montage - Left - 20/32

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Goldmann Visual Field - Right - 20/25

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Goldmann Visual Field - Left - 20/32

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Optical Coherence Tomography - Right - 20/25

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25

Exemplar

Infrared Fundus Photograph - Left - 20/32

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Blue Autofluorescence - Right - 20/25

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Blue Autofluorescence - Left - 20/32

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Visit at age: 70 years

Fundus Photography - Right - 20/50

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Fundus Photography - Left - 20/63

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Fundus Montage - Right - 20/50

Exemplar

Fundus Montage - Left - 20/63

Exemplar

Goldmann Visual Field - Right - 20/50

Exemplar

Goldmann Visual Field - Left - 20/63

Exemplar

Optical Coherence Tomography - Right - 20/50

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/63

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50

Exemplar

Infrared Fundus Photograph - Left - 20/63

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Retinitis Pigmentosa SAG Cys147Phe TGT>TTT   AD
Disease:
AD Retinitis Pigmentosa
Gene:
SAG
Allele 1:
Cys147Phe TGT>TTT
Allele 2:
 
Inheritance:
AD
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