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StoneRounds Disease Atlas SR85

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SR85

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Type 1 Usher Syndrome (IB1a)

Male

Male

SR85

Ladder View Download View

Type 1 Usher Syndrome (IB1a)

Male

Male

Visit at age: 8 years

Fundus Photography - Right - 20/32 -1

Exemplar

Fundus Photography - Left - 20/32 -1

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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

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Visit at age: 16 years

Fundus Photography - Right - 20/40

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Fundus Photography - Left - 20/40 -1

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Fundus Montage - Right - 20/40

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Fundus Montage - Left - 20/40 -1

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Goldmann Visual Field - Right - 20/40

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Goldmann Visual Field - Left - 20/40 -1

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Optical Coherence Tomography - Right - 20/40

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

Exemplar

Infrared Fundus Photograph - Left - 20/40 -1

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Blue Autofluorescence - Right - 20/40

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Blue Autofluorescence - Left - 20/40 -1

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Visit at age: 17 years

Goldmann Visual Field - Right - 20/25

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Goldmann Visual Field - Left - 20/25 -2

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Optical Coherence Tomography - Right - 20/25

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25

Exemplar

Infrared Fundus Photograph - Left - 20/25 -2

Exemplar

Blue Autofluorescence - Right - 20/25

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Blue Autofluorescence - Left - 20/25 -2

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Visit at age: 19 years

Optical Coherence Tomography - Right - 20/25 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -1

Exemplar

Infrared Fundus Photograph - Left - 20/25 -1

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Type 1 Usher Syndrome MYO7A Gln1798Stop CAG>TAG Ile539 ins1atC AR
Disease:
Type 1 Usher Syndrome
Gene:
MYO7A
Allele 1:
Gln1798Stop CAG>TAG
Allele 2:
Ile539 ins1atC
Inheritance:
AR
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