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StoneRounds Disease Atlas SR316

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SR316

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XL Retinoschisis (IIIB1)

Male

Male

SR316

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XL Retinoschisis (IIIB1)

Male

Male

Visit at age: 6 years

Fundus Photography - Right - 20/50

Exemplar

Fundus Photography - Left - 20/40

Exemplar

Goldmann Visual Field - Right - 20/50

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Goldmann Visual Field - Left - 20/40

Exemplar

Optical Coherence Tomography - Right - 20/50

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50

Exemplar

Infrared Fundus Photograph - Left - 20/40

Exemplar

Visit at age: 7 years

Optical Coherence Tomography - Right - 20/50 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50 -1

Exemplar

Infrared Fundus Photograph - Left - 20/40

Exemplar

Visit at age: 8 years

Optical Coherence Tomography - Right - 20/25 -2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/30 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -2

Exemplar

Infrared Fundus Photograph - Left - 20/30 -2

Exemplar

Visit at age: 9 years

Optical Coherence Tomography - Right - 20/50 -1 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32 -1 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50 -1 sc

Exemplar

Infrared Fundus Photograph - Left - 20/32 -1 sc

Exemplar

Visit at age: 10 years

Optical Coherence Tomography - Right - 20/40 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -2 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 sc

Exemplar

Infrared Fundus Photograph - Left - 20/25 -2 sc

Exemplar

Visit at age: 11 years

Goldmann Visual Field - Right - 20/50 sc

Exemplar

Goldmann Visual Field - Left - 20/25 -1 sc

Exemplar

Optical Coherence Tomography - Right - 20/50 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -1 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50 sc

Exemplar

Infrared Fundus Photograph - Left - 20/25 -1 sc

Exemplar

Visit at age: 12 years

Optical Coherence Tomography - Right - 20/40 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -1 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 sc

Exemplar

Infrared Fundus Photograph - Left - 20/25 -1 sc

Exemplar

Visit at age: 14 years

Goldmann Visual Field - Right - 20/30 -1 sc

Exemplar

Goldmann Visual Field - Left - 20/60 sc

Exemplar

Optical Coherence Tomography - Right - 20/30 -1 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/60 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/30 -1 sc

Exemplar

Infrared Fundus Photograph - Left - 20/60 sc

Exemplar

Blue Autofluorescence - Right - 20/30 -1 sc

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Blue Autofluorescence - Left - 20/60 sc

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Visit at age: 14 years (Visit 2)

Optical Coherence Tomography - Right - 20/30 -1 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 -2 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/30 -1 sc

Exemplar

Infrared Fundus Photograph - Left - 20/40 -2 sc

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinoschisis RS1 Pro192His CCC>CAC   XL
Disease:
XL Retinoschisis
Gene:
RS1
Allele 1:
Pro192His CCC>CAC
Allele 2:
 
Inheritance:
XL
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