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StoneRounds Disease Atlas SR1651

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SR1651

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Type 2 Usher Syndrome (IB1b)

Female

Female

SR1651

Ladder View Download View

Type 2 Usher Syndrome (IB1b)

Female

Female

Visit at age: 25 years

Fundus Photography - Right - 20/20 -1

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Fundus Photography - Left - 20/20 -2

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Fundus Montage - Right - 20/20 -1

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Fundus Montage - Left - 20/20 -2

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Goldmann Visual Field - Right - 20/20 -1

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Goldmann Visual Field - Left - 20/20 -2

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Optical Coherence Tomography - Right - 20/20 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 -1

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Infrared Fundus Photograph - Left - 20/20 -2

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Visit at age: 26 years

Optical Coherence Tomography - Right - 20/20 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 -1

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Infrared Fundus Photograph - Left - 20/20

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Visit at age: 26 years (Visit 2)

Optical Coherence Tomography - Right - 20/20 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 -1

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Infrared Fundus Photograph - Left - 20/20 -1

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Visit at age: 26 years (Visit 3)

Optical Coherence Tomography - Right - 20/25 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 +2

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Infrared Fundus Photograph - Left - 20/20 -1

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Visit at age: 27 years

Fundus Photography - Right - 20/25 +2

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Fundus Photography - Left - 20/25 +1

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Goldmann Visual Field - Right - 20/25 +2

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Goldmann Visual Field - Left - 20/25 +1

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Optical Coherence Tomography - Right - 20/25 +2

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 +2

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Infrared Fundus Photograph - Left - 20/25 +1

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Blue Autofluorescence - Right - 20/25 +2

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Blue Autofluorescence - Left - 20/25 +1

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Visit at age: 29 years

Fundus Photography - Right - 20/25 -2

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Fundus Photography - Left - 20/25 -2

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Goldmann Visual Field - Right - 20/25 -2

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Goldmann Visual Field - Left - 20/25 -2

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Optical Coherence Tomography - Right - 20/25 -2

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 -2

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Infrared Fundus Photograph - Left - 20/25 -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 Glu767 del1tgtG Complex Deletion_Including Exon 27; HG19:216247745-216250332 deleted_216250333-216250413 preserved_216250414-216252638 deleted AR
Disease:
Type 2 Usher Syndrome
Gene:
USH2A
Allele 1:
Glu767 del1tgtG
Allele 2:
Complex Deletion_Including Exon 27; HG19:216247745-216250332 deleted_216250333-216250413 preserved_216250414-216252638 deleted
Inheritance:
AR
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