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StoneRounds Disease Atlas SR2710

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SR2710

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XL Retinoschisis (IIIB1)

Male

Male

SR2710

Ladder View Download View

XL Retinoschisis (IIIB1)

Male

Male

Visit at age: 6 years

Fundus Photography - Right - 10/40

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Fundus Photography - Left - 10/40

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Fundus Montage - Right - 10/40

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Fundus Montage - Left - 10/40

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Optical Coherence Tomography - Right - 10/40

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 10/40

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 10/40

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Infrared Fundus Photograph - Left - 10/40

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Visit at age: 6 years (Visit 2)

Fundus Photography - Right - 20/150

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Fundus Photography - Left - 20/100

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Optical Coherence Tomography - Right - 20/150

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/100

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Infrared Fundus Photograph - Right - 20/150

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Infrared Fundus Photograph - Left - 20/100

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Visit at age: 7 years

Optical Coherence Tomography - Right - 20/200

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/150

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200

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Infrared Fundus Photograph - Left - 20/150

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Visit at age: 7 years (Visit 2)

Optical Coherence Tomography - Right - 10/50

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 10/40

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 10/50

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Infrared Fundus Photograph - Left - 10/40

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Visit at age: 8 years

Fundus Photography - Right - 20/100

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Fundus Photography - Left - 20/100

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Goldmann Visual Field - Right - 20/100

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Optical Coherence Tomography - Right - 20/100

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/100

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/100

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Infrared Fundus Photograph - Left - 20/100

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinoschisis RS1 Tyr93Stop TAT>TAG   XL
Disease:
XL Retinoschisis
Gene:
RS1
Allele 1:
Tyr93Stop TAT>TAG
Allele 2:
 
Inheritance:
XL
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