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StoneRounds Disease Atlas SR342

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SR342

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XL Retinoschisis (IIIB1)

Male

Male

SR342

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XL Retinoschisis (IIIB1)

Male

Male

Visit at age: 33 years

Fundus Photography - Right - 20/80 sc

Exemplar

Fundus Photography - Left - 20/70 +1 sc

Exemplar

Fundus Montage - Right - 20/80 sc

Exemplar

Fundus Montage - Left - 20/70 +1 sc

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Optical Coherence Tomography - Right - 20/80 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/70 +1 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80 sc

Exemplar

Infrared Fundus Photograph - Left - 20/70 +1 sc

Exemplar

Visit at age: 33 years (Visit 2)

Optical Coherence Tomography - Right - 20/70

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/70 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/70

Exemplar

Infrared Fundus Photograph - Left - 20/70 -2

Exemplar

Visit at age: 34 years

Optical Coherence Tomography - Right - 20/50 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/60 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50 +1

Exemplar

Infrared Fundus Photograph - Left - 20/60 -2

Exemplar

Visit at age: 35 years

Optical Coherence Tomography - Right - 20/60

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/70

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/60

Exemplar

Infrared Fundus Photograph - Left - 20/70

Exemplar

Visit at age: 37 years

Goldmann Visual Field - Right - 20/60 sc

Exemplar

Goldmann Visual Field - Left - 20/60 -1 sc

Exemplar

Optical Coherence Tomography - Right - 20/60 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/60 -1 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/60 sc

Exemplar

Infrared Fundus Photograph - Left - 20/60 -1 sc

Exemplar

Visit at age: 38 years

Goldmann Visual Field - Right - 20/80 +2

Exemplar

Goldmann Visual Field - Left - 20/80

Exemplar

Optical Coherence Tomography - Right - 20/80 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/80

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80 +2

Exemplar

Infrared Fundus Photograph - Left - 20/80

Exemplar

Visit at age: 39 years

Goldmann Visual Field - Right - 20/80 -1 sc

Exemplar

Goldmann Visual Field - Left - 20/80 -2 sc

Exemplar

Optical Coherence Tomography - Right - 20/80 -1 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/80 -2 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80 -1 sc

Exemplar

Infrared Fundus Photograph - Left - 20/80 -2 sc

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Visit at age: 40 years

Goldmann Visual Field - Right - 20/80 +1 sc

Exemplar

Goldmann Visual Field - Left - 20/80 sc

Exemplar

Optical Coherence Tomography - Right - 20/80 +1 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/80 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80 +1 sc

Exemplar

Infrared Fundus Photograph - Left - 20/80 sc

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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