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StoneRounds Disease Atlas SR55

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SR55

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Type 2 Usher Syndrome (IB1b)

Female

Female

SR55

Ladder View Download View

Type 2 Usher Syndrome (IB1b)

Female

Female

Visit at age: 48 years

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Exemplar / OCT Stack
OCT Stack

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OCT Stack

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Visit at age: 49 years

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Optical Coherence Tomography - Right - 20/40 +1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25

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OCT Stack

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Visit at age: 50 years

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Exemplar / OCT Stack
OCT Stack

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OCT Stack

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Visit at age: 53 years

Goldmann Visual Field - Right - 20/32 -1

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Exemplar / OCT Stack
OCT Stack
OCT Stack

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OCT Stack
OCT Stack

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Visit at age: 55 years

Goldmann Visual Field - Right - 20/32 -2

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Goldmann Visual Field - Left - 20/25 +2

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Optical Coherence Tomography - Right - 20/32 -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 - 20/32 -2

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Infrared Fundus Photograph - Left - 20/25 +2

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Visit at age: 59 years

Goldmann Visual Field - Right - 20/40 -1

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Goldmann Visual Field - Left - 20/40 +2

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Optical Coherence Tomography - Right - 20/40 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 +2

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OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 -1

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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 Asn346His AAT>CAT Gly1734Cys GGT>TGT AR
Disease:
Type 2 Usher Syndrome
Gene:
USH2A
Allele 1:
Asn346His AAT>CAT
Allele 2:
Gly1734Cys GGT>TGT
Inheritance:
AR
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