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StoneRounds Disease Atlas SR548

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SR548

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Type 1 Usher Syndrome (IB1a)

Female

Female

SR548

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Type 1 Usher Syndrome (IB1a)

Female

Female

Visit at age: 32 years

Fundus Photography - Right - 20/25

Exemplar

Fundus Photography - Left - 20/32 -1

Exemplar

Fundus Montage - Right - 20/25

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Fundus Montage - Left - 20/32 -1

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Goldmann Visual Field - Right - 20/25

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Goldmann Visual Field - Left - 20/32 -1

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Optical Coherence Tomography - Right - 20/25

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

Exemplar

Infrared Fundus Photograph - Left - 20/32 -1

Exemplar

Visit at age: 34 years

Goldmann Visual Field - Right - 20/25

Exemplar

Goldmann Visual Field - Left - 20/25

Exemplar

Optical Coherence Tomography - Right - 20/25

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25

Exemplar

Infrared Fundus Photograph - Left - 20/25

Exemplar

Visit at age: 38 years

Fundus Photography - Right - 20/30 -1

Exemplar

Fundus Photography - Left - 20/30

Exemplar

Fundus Montage - Right - 20/30 -1

Exemplar

Fundus Montage - Left - 20/30

Exemplar

Optical Coherence Tomography - Right - 20/30 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/30

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/30 -1

Exemplar

Infrared Fundus Photograph - Left - 20/30

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Type 1 Usher Syndrome MYO7A IVS27-1 G>C Met946 del1atG AR
Disease:
Type 1 Usher Syndrome
Gene:
MYO7A
Allele 1:
IVS27-1 G>C
Allele 2:
Met946 del1atG
Inheritance:
AR
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