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StoneRounds Disease Atlas SR404

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SR404

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ECORD (IA2c)

Male

Male

SR404

Ladder View Download View

ECORD (IA2c)

Male

Male

Visit at age: 5 years

Fundus Photography - Right - 20/40

Exemplar

Fundus Photography - Left - 20/50

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Optical Coherence Tomography - Right - 20/40

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40

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Infrared Fundus Photograph - Left - 20/50

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Visit at age: 6 years

Goldmann Visual Field - Right - 20/32 -1

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Goldmann Visual Field - Left - 20/32 -1

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Optical Coherence Tomography - Right - 20/32 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/32 -1

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Infrared Fundus Photograph - Left - 20/32 -1

Exemplar

Visit at age: 7 years

Fundus Photography - Right - 20/32 -2

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Fundus Photography - Left - 20/32 +1

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Fundus Montage - Right - 20/32 -2

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Fundus Montage - Left - 20/32 +1

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Goldmann Visual Field - Right - 20/32 -2

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Goldmann Visual Field - Left - 20/32 +1

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Optical Coherence Tomography - Right - 20/32 -2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32 +1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/32 -2

Exemplar

Infrared Fundus Photograph - Left - 20/32 +1

Exemplar

Visit at age: 8 years

Goldmann Visual Field - Right - 20/32

Exemplar

Goldmann Visual Field - Left - 20/25

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Optical Coherence Tomography - Right - 20/32

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/32

Exemplar

Infrared Fundus Photograph - Left - 20/25

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Visit at age: 9 years

Goldmann Visual Field - Right - 20/20 -2

Exemplar

Goldmann Visual Field - Left - 20/20 -2

Exemplar

Optical Coherence Tomography - Right - 20/20 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 -2

Exemplar

Infrared Fundus Photograph - Left - 20/20 -2

Exemplar

Visit at age: 11 years

Goldmann Visual Field - Right - 20/25

Exemplar

Goldmann Visual Field - Left - 20/20

Exemplar

Optical Coherence Tomography - Right - 20/25

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25

Exemplar

Infrared Fundus Photograph - Left - 20/20

Exemplar

Visit at age: 15 years

Goldmann Visual Field - Right - 20/25

Exemplar

Goldmann Visual Field - Left - 20/20 -1

Exemplar

Optical Coherence Tomography - Right - 20/25

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25

Exemplar

Infrared Fundus Photograph - Left - 20/20 -1

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
ECORD RHO Leu125Arg CTG>CGG   AD
Disease:
ECORD
Gene:
RHO
Allele 1:
Leu125Arg CTG>CGG
Allele 2:
 
Inheritance:
AD
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