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SR1651

Type 2 Usher Syndrome (IB1b)

Female

Female

SR1651

Type 2 Usher Syndrome (IB1b)

Female

Female

Visit at age: 25 years

Fundus Photography - Right - 20/20 -1

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OCT Stack

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OCT Stack

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Visit at age: 26 years

Optical Coherence Tomography - Right - 20/20 -1

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OCT Stack

OCT Stack

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Visit at age: 26 years (Visit 2)

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OCT Stack

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OCT Stack

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Visit at age: 26 years (Visit 3)

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OCT Stack

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OCT Stack

OCT Stack

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Visit at age: 27 years

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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

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OCT Stack

OCT Stack

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Blue Autofluorescence - Right - 20/25 +2

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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

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OCT Stack

OCT Stack

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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:

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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