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SR660

XL Retinoschisis (IIIB1)

Male

Male

SR660

XL Retinoschisis (IIIB1)

Male

Male

Visit at age: 56 years

Fundus Photography - Right - 20/80

Exemplar

Fundus Photography - Left - 20/40

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Fundus Montage - Right - 20/80

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Fundus Montage - Left - 20/40

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Goldmann Visual Field - Right - 20/80

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Goldmann Visual Field - Left - 20/40

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Optical Coherence Tomography - Right - 20/80

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80

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Infrared Fundus Photograph - Left - 20/40

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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 Gly70Ser GGT>AGT   XL
Disease:
Gene:
Allele 1:
Gly70Ser GGT>AGT
Allele 2:
 
Inheritance:
XL
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