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StoneRounds Disease Atlas SR263

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SR263

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SECORD (IA2b)

Male

Male

SR263

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SECORD (IA2b)

Male

Male

Visit at age: 12 years

Fundus Photography - Right - 20/200 +1

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Fundus Photography - Left - 20/100 -2

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Fundus Montage - Right - 20/200 +1

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Fundus Montage - Left - 20/100 -2

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Goldmann Visual Field - Right - 20/200 +1

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Goldmann Visual Field - Left - 20/100 -2

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Optical Coherence Tomography - Right - 20/200 +1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/100 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200 +1

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Infrared Fundus Photograph - Left - 20/100 -2

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Visit at age: 13 years

Goldmann Visual Field - Right - 20/300

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Goldmann Visual Field - Left - 20/80 -1

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Visit at age: 14 years

Goldmann Visual Field - Right - 10/200

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Goldmann Visual Field - Left - 10/63 -1

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Visit at age: 18 years

Fundus Photography - Right - 10/300

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Fundus Photography - Left - 20/80 -1

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Fundus Montage - Right - 10/300

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Fundus Montage - Left - 20/80 -1

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Goldmann Visual Field - Right - 10/300

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Goldmann Visual Field - Left - 20/80 -1

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Optical Coherence Tomography - Right - 10/300

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/80 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 10/300

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Infrared Fundus Photograph - Left - 20/80 -1

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Visit at age: 22 years

Fundus Photography - Right - 10/600

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Fundus Photography - Left - 20/100 -2

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Fundus Montage - Right - 10/600

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Fundus Montage - Left - 20/100 -2

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Goldmann Visual Field - Right - 10/600

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Goldmann Visual Field - Left - 20/100 -2

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Optical Coherence Tomography - Right - 10/600

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/100 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 10/600

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Infrared Fundus Photograph - Left - 20/100 -2

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Visit at age: 25 years

Optical Coherence Tomography - Right - 20/1000 sc

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/500

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/1000 sc

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Infrared Fundus Photograph - Left - 20/500

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
SECORD CRB1 Cys948Tyr (T)GT>(T)AT Tyr702Cys TAT>TGT AR
Disease:
SECORD
Gene:
CRB1
Allele 1:
Cys948Tyr (T)GT>(T)AT
Allele 2:
Tyr702Cys TAT>TGT
Inheritance:
AR
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