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StoneRounds Disease Atlas SR2282

SR2282

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ECORD (IA2c)

Male

Male

SR2282

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ECORD (IA2c)

Male

Male

Visit at age: 17 years

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Optical Coherence Tomography - Right - 20/160

Exemplar / OCT Stack
OCT Stack
OCT Stack

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OCT Stack
OCT Stack

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Visit at age: 17 years (Visit 2)

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Exemplar / OCT Stack
OCT Stack
OCT Stack

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Visit at age: 18 years

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Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/125 -2

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OCT Stack

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Visit at age: 20 years

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Goldmann Visual Field - Right - 20/160 -2

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Goldmann Visual Field - Left - 20/200 +2

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Optical Coherence Tomography - Right - 20/160 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/200 +2

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OCT Stack
OCT Stack

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
ECORD CRB1 Gly770Ser GGC>AGC Cys896Stop TGT>TGA AR
Disease:
ECORD
Gene:
CRB1
Allele 1:
Gly770Ser GGC>AGC
Allele 2:
Cys896Stop TGT>TGA
Inheritance:
AR
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