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StoneRounds Disease Atlas SR2495

SR2495

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Usher Syndrome (IB1)

Female

Female

SR2495

Ladder View Download View

Usher Syndrome (IB1)

Female

Female

Visit at age: 7 years

Fundus Photography - Right - 20/200 -1

Exemplar

Fundus Photography - Left - 20/200 -2

Exemplar

Goldmann Visual Field - Right - 20/200 -1

Exemplar

Goldmann Visual Field - Left - 20/200 -2

Exemplar

Optical Coherence Tomography - Right - 20/200 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/200 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200 -1

Exemplar

Infrared Fundus Photograph - Left - 20/200 -2

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Usher Syndrome TUBB4B Arg391His CGC>CAC   AD
Disease:
Usher Syndrome
Gene:
TUBB4B
Allele 1:
Arg391His CGC>CAC
Allele 2:
 
Inheritance:
AD
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