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StoneRounds Disease Atlas SR482

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SR482

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XL Retinoschisis (IIIB1)

Male

Male

SR482

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XL Retinoschisis (IIIB1)

Male

Male

Visit at age: 11 years

Fundus Photography - Right - 20/63 -2

Exemplar

Fundus Photography - Left - 20/50 -2

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Fundus Montage - Right - 20/63 -2

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Fundus Montage - Left - 20/50 -2

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Goldmann Visual Field - Right - 20/63 -2

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Goldmann Visual Field - Left - 20/50 -2

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Optical Coherence Tomography - Right - 20/63 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/63 -2

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Infrared Fundus Photograph - Left - 20/50 -2

Exemplar

Visit at age: 13 years

Goldmann Visual Field - Right - 20/63 -2

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Goldmann Visual Field - Left - 20/50

Exemplar

Optical Coherence Tomography - Right - 20/63 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/63 -2

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Infrared Fundus Photograph - Left - 20/50

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Visit at age: 15 years

Goldmann Visual Field - Right - 20/63 +1

Exemplar

Goldmann Visual Field - Left - 20/50

Exemplar

Optical Coherence Tomography - Right - 20/63 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/63 +1

Exemplar

Infrared Fundus Photograph - Left - 20/50

Exemplar

Visit at age: 17 years

Goldmann Visual Field - Right - 20/80 +1

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Goldmann Visual Field - Left - 20/50 -1

Exemplar

Optical Coherence Tomography - Right - 20/80 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80 +1

Exemplar

Infrared Fundus Photograph - Left - 20/50 -1

Exemplar

Visit at age: 18 years

Goldmann Visual Field - Right - 20/80

Exemplar

Goldmann Visual Field - Left - 20/50 -1

Exemplar

Optical Coherence Tomography - Right - 20/80

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80

Exemplar

Infrared Fundus Photograph - Left - 20/50 -1

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinoschisis RS1 Trp96Arg TGG>CGG   XL
Disease:
XL Retinoschisis
Gene:
RS1
Allele 1:
Trp96Arg TGG>CGG
Allele 2:
 
Inheritance:
XL
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