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StoneRounds Disease Atlas SR1603

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SR1603

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Type 2 Usher Syndrome (IB1b)

Male

Male

SR1603

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Type 2 Usher Syndrome (IB1b)

Male

Male

Visit at age: 45 years

Goldmann Visual Field - Right - 20/20

Exemplar

Goldmann Visual Field - Left - 20/25 +3

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Visit at age: 46 years

Goldmann Visual Field - Right - 20/25 -1

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Goldmann Visual Field - Left - 20/25 -1

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Visit at age: 59 years

Fundus Photography - Right - 20/25 -1

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Fundus Photography - Left - 20/40 +1

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Fundus Montage - Right - 20/25 -1

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Fundus Montage - Left - 20/40 +1

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Goldmann Visual Field - Right - 20/25 -1

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Goldmann Visual Field - Left - 20/40 +1

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Optical Coherence Tomography - Right - 20/25 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 +1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -1

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Infrared Fundus Photograph - Left - 20/40 +1

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Visit at age: 60 years

Goldmann Visual Field - Right - 20/25 +1

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Goldmann Visual Field - Left - 20/40 -2

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Optical Coherence Tomography - Right - 20/25 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 +1

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Infrared Fundus Photograph - Left - 20/40 -2

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Visit at age: 62 years

Fundus Photography - Right - 20/25 -1

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Fundus Photography - Left - 20/32 -1

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Fundus Montage - Right - 20/25 -1

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Fundus Montage - Left - 20/32 -1

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Goldmann Visual Field - Right - 20/25 -1

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Goldmann Visual Field - Left - 20/32 -1

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Optical Coherence Tomography - Right - 20/25 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -1

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Infrared Fundus Photograph - Left - 20/32 -1

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Visit at age: 66 years

Goldmann Visual Field - Right - 20/40 +2

Exemplar

Goldmann Visual Field - Left - 20/40 +1

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Optical Coherence Tomography - Right - 20/40 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 +2

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Infrared Fundus Photograph - Left - 20/40 +1

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Visit at age: 68 years

Goldmann Visual Field - Right - 20/32 -2

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Goldmann Visual Field - Left - 20/40 -1

Exemplar

Optical Coherence Tomography - Right - 20/32 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/32 -2

Exemplar

Infrared Fundus Photograph - Left - 20/40 -1

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Visit at age: 70 years

Optical Coherence Tomography - Right - 20/40 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 -2

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Infrared Fundus Photograph - Left - 20/40 -2

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Type 2 Usher Syndrome USH2A Cys536Arg TGC>CGC IVS43-9 A>G AR
Disease:
Type 2 Usher Syndrome
Gene:
USH2A
Allele 1:
Cys536Arg TGC>CGC
Allele 2:
IVS43-9 A>G
Inheritance:
AR
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