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StoneRounds Disease Atlas SR38

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SR38

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Gyrate Atrophy (IIIA2)

Female

Female

SR38

Ladder View Download View

Gyrate Atrophy (IIIA2)

Female

Female

Visit at age: 7 years

Fundus Photography - Right - 20/50

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Fundus Photography - Left - 20/32

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Fundus Montage - Right - 20/50

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Fundus Montage - Left - 20/32

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Goldmann Visual Field - Right - 20/50

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Goldmann Visual Field - Left - 20/32

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Optical Coherence Tomography - Right - 20/50

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/32

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/50

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Infrared Fundus Photograph - Left - 20/32

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Visit at age: 7 years (Visit 2)

Optical Coherence Tomography - Right - 20/40 -2

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/30 -1

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/40 -2

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Infrared Fundus Photograph - Left - 20/30 -1

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Visit at age: 7 years (Visit 3)

Optical Coherence Tomography - Right - 20/40 -2

Exemplar / OCT Stack

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Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/40 -2

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Infrared Fundus Photograph - Left - 20/25 -2

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Visit at age: 7 years (Visit 4)

Optical Coherence Tomography - Right - 20/30 -2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -3

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/30 -2

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Visit at age: 8 years

Goldmann Visual Field - Right - 20/40 +2

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Goldmann Visual Field - Left - 20/25 -2

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Optical Coherence Tomography - Right - 20/40 +2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 +2

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Infrared Fundus Photograph - Left - 20/25 -2

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Visit at age: 9 years

Optical Coherence Tomography - Right - 20/50

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50

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Infrared Fundus Photograph - Left - 20/50 -1

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Visit at age: 9 years (Visit 2)

Fundus Photography - Right - 20/50

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Fundus Photography - Left - 20/40

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Fundus Montage - Right - 20/50

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Fundus Montage - Left - 20/40

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Goldmann Visual Field - Right - 20/50

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Goldmann Visual Field - Left - 20/40

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Optical Coherence Tomography - Right - 20/50

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50

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Infrared Fundus Photograph - Left - 20/40

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Visit at age: 10 years

Optical Coherence Tomography - Right - 20/40 +2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 +2

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Infrared Fundus Photograph - Left - 20/25

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Visit at age: 10 years (Visit 2)

Goldmann Visual Field - Right - 20/50 +1

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Goldmann Visual Field - Left - 20/50 -2

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Optical Coherence Tomography - Right - 20/50 +1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50 +1

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Infrared Fundus Photograph - Left - 20/50 -2

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Visit at age: 11 years

Optical Coherence Tomography - Right - 20/40

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/30 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40

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Infrared Fundus Photograph - Left - 20/30 -2

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Visit at age: 11 years (Visit 2)

Goldmann Visual Field - Right - 20/50 -2

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Goldmann Visual Field - Left - 20/50

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Optical Coherence Tomography - Right - 20/50 -2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50

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OCT Stack

Infrared Fundus Photograph - Right - 20/50 -2

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Infrared Fundus Photograph - Left - 20/50

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Visit at age: 12 years

Fundus Photography - Right - 20/50 -1

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Fundus Montage - Right - 20/50 -1

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Fundus Montage - Left - 20/50 -2

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Optical Coherence Tomography - Right - 20/50 -1

Exemplar / OCT Stack
OCT Stack

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Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50 -1

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Infrared Fundus Photograph - Left - 20/50 -2

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Visit at age: 12 years (Visit 2)

Goldmann Visual Field - Right - 20/40

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Goldmann Visual Field - Left - 20/60 -2

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Optical Coherence Tomography - Right - 20/40

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/60 -2

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OCT Stack

Infrared Fundus Photograph - Right - 20/40

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Infrared Fundus Photograph - Left - 20/60 -2

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Visit at age: 13 years

Optical Coherence Tomography - Right - 20/40 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 -1

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Infrared Fundus Photograph - Left - 20/50

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Visit at age: 14 years

Goldmann Visual Field - Right - 20/50

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Goldmann Visual Field - Left - 20/32

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Optical Coherence Tomography - Right - 20/50

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32

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OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50

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Fluorescein Angiography - Right - 20/50

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Fluorescein Angiography - Left - 20/32

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Visit at age: 14 years (Visit 2)

Optical Coherence Tomography - Right - 20/40 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 -1

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Infrared Fundus Photograph - Left - 20/32

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Visit at age: 15 years

Optical Coherence Tomography - Right - 20/40 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

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Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 +1

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Infrared Fundus Photograph - Left - 20/30 -1

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Visit at age: 16 years

Fundus Photography - Right - 20/50 +2

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Fundus Photography - Left - 20/40

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Optical Coherence Tomography - Right - 20/50 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50 +2

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Infrared Fundus Photograph - Left - 20/40

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Visit at age: 20 years

Goldmann Visual Field - Right - 20/50 +1

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Goldmann Visual Field - Left - 20/70

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Optical Coherence Tomography - Right - 20/50 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/70

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OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50 +1

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Gyrate Atrophy OAT Gly91Glu GGG>GAG IVS3-6 del9cTGATAGGAG AR
Disease:
Gyrate Atrophy
Gene:
OAT
Allele 1:
Gly91Glu GGG>GAG
Allele 2:
IVS3-6 del9cTGATAGGAG
Inheritance:
AR
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