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StoneRounds Disease Atlas SR201

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SR201

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SECORD (IA2b)

Female

Female

SR201

Ladder View Download View

SECORD (IA2b)

Female

Female

Visit at age: 57 years

Fundus Photography - Right - 20/200 sc

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Fundus Photography - Left - 20/125 sc

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Fundus Montage - Left - 20/125 sc

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Goldmann Visual Field - Right - 20/200 sc

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Goldmann Visual Field - Left - 20/125 sc

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Visit at age: 59 years

Fundus Photography - Right - 20/250 sc

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Fundus Photography - Left - 20/100 -1 sc

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Goldmann Visual Field - Left - 20/100 -1 sc

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Optical Coherence Tomography - Right - 20/250 sc

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Optical Coherence Tomography - Left - 20/100 -1 sc

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Infrared Fundus Photograph - Right - 20/250 sc

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Infrared Fundus Photograph - Left - 20/100 -1 sc

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Visit at age: 60 years

Fundus Photography - Right - 20/200 sc

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Fundus Photography - Left - 20/400 sc

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Optical Coherence Tomography - Right - 20/200 sc

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Optical Coherence Tomography - Left - 20/400 sc

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Infrared Fundus Photograph - Right - 20/200 sc

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Infrared Fundus Photograph - Left - 20/400 sc

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B-Scan Ultrasonography - Left - 20/400 sc

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Visit at age: 60 years (Visit 2)

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B-Scan Ultrasonography - Left - 20/300 sc

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Visit at age: 60 years (Visit 3)

Optical Coherence Tomography - Left - Light Perception

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Left - Light Perception

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Visit at age: 60 years (Visit 4)

Fundus Photography - Left - 20/1000 sc

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Optical Coherence Tomography - Left - 20/1000 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Left - 20/1000 sc

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Visit at age: 61 years

Fundus Photography - Left - 20/400 sc

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Fundus Montage - Left - 20/400 sc

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Optical Coherence Tomography - Left - 20/400 sc

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Infrared Fundus Photograph - Left - 20/400 sc

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Visit at age: 61 years (Visit 2)

Fundus Photography - Left - 20/300

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Fundus Montage - Left - 20/300

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Optical Coherence Tomography - Left - 20/300

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OCT Stack
OCT Stack

Infrared Fundus Photograph - Left - 20/300

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Visit at age: 62 years

Goldmann Visual Field - Right - 20/80 -1 sc

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Goldmann Visual Field - Left - 20/200 sc

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Optical Coherence Tomography - Right - 20/80 -1 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/200 sc

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OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80 -1 sc

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Infrared Fundus Photograph - Left - 20/200 sc

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Visit at age: 62 years (Visit 2)

Optical Coherence Tomography - Right - 20/100

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Optical Coherence Tomography - Left - 20/200

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OCT Stack

Infrared Fundus Photograph - Right - 20/100

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Infrared Fundus Photograph - Left - 20/200

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Visit at age: 63 years

Optical Coherence Tomography - Right - 20/80 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/250 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80 sc

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Infrared Fundus Photograph - Left - 20/250 sc

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Visit at age: 63 years (Visit 2)

Goldmann Visual Field - Right - 20/100 +1 sc

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Goldmann Visual Field - Left - 20/300 sc

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Optical Coherence Tomography - Right - 20/100 +1 sc

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/300 sc

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OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/100 +1 sc

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Infrared Fundus Photograph - Left - 20/300 sc

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Visit at age: 64 years

Optical Coherence Tomography - Right - 20/150 sc

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OCT Stack

Optical Coherence Tomography - Left - 20/500 sc

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OCT Stack
OCT Stack

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Infrared Fundus Photograph - Left - 20/500 sc

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Visit at age: 65 years

Goldmann Visual Field - Right - 20/125 -1 sc

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Goldmann Visual Field - Left - 20/400 sc

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Optical Coherence Tomography - Right - 20/125 -1 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/400 sc

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OCT Stack

Infrared Fundus Photograph - Right - 20/125 -1 sc

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Infrared Fundus Photograph - Left - 20/400 sc

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Visit at age: 65 years (Visit 2)

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Fundus Photography - Left - 20/600 sc

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Fundus Montage - Right - 20/100 sc

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Fundus Montage - Left - 20/600 sc

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Optical Coherence Tomography - Right - 20/100 sc

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OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/600 sc

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OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/100 sc

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Infrared Fundus Photograph - Left - 20/600 sc

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Visit at age: 66 years

Fundus Photography - Right - 20/100 -1 sc

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Fundus Photography - Left - 20/1000 sc

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Fundus Montage - Right - 20/100 -1 sc

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Fundus Montage - Left - 20/1000 sc

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Optical Coherence Tomography - Right - 20/100 -1 sc

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OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/1000 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/100 -1 sc

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Infrared Fundus Photograph - Left - 20/1000 sc

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Visit at age: 66 years (Visit 2)

Optical Coherence Tomography - Right - 20/150 sc

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Optical Coherence Tomography - Left - Light Perception

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Infrared Fundus Photograph - Right - 20/150 sc

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Infrared Fundus Photograph - Left - Light Perception

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Visit at age: 67 years

Optical Coherence Tomography - Right - 20/100 -1 sc

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OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Light Perception

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/100 -1 sc

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Infrared Fundus Photograph - Left - Light Perception

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Visit at age: 68 years

Optical Coherence Tomography - Right - 20/80 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Light Perception

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80 sc

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Infrared Fundus Photograph - Left - Light Perception

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Visit at age: 69 years

Optical Coherence Tomography - Right - 20/80 +1 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Light Perception

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OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80 +1 sc

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Infrared Fundus Photograph - Left - Light Perception

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
SECORD CEP290 IVS26+1655 A>G Lys1575Stop AAG>TAG AR
Disease:
SECORD
Gene:
CEP290
Allele 1:
IVS26+1655 A>G
Allele 2:
Lys1575Stop AAG>TAG
Inheritance:
AR
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