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StoneRounds Disease Atlas SR533

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SR533

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ECORD (IA2c)

Male

Male

SR533

Ladder View Download View

ECORD (IA2c)

Male

Male

Visit at age: 14 years

Fundus Photography - Right - 20/32 -1

Exemplar

Fundus Photography - Left - 20/32 -1

Exemplar

Fundus Montage - Right - 20/32 -1

Exemplar

Fundus Montage - Left - 20/32 -1

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Goldmann Visual Field - Right - 20/32 -1

Exemplar

Goldmann Visual Field - Left - 20/32 -1

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Optical Coherence Tomography - Right - 20/32 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/32 -1

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Infrared Fundus Photograph - Left - 20/32 -1

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Visit at age: 18 years

Goldmann Visual Field - Right - 20/25

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Goldmann Visual Field - Left - 20/20 -2

Exemplar

Optical Coherence Tomography - Right - 20/25

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25

Exemplar

Infrared Fundus Photograph - Left - 20/20 -2

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
ECORD CRB1 Lys801Stop AAG>TAG Gly770Ser GGC>AGC AR
Disease:
ECORD
Gene:
CRB1
Allele 1:
Lys801Stop AAG>TAG
Allele 2:
Gly770Ser GGC>AGC
Inheritance:
AR
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