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SR2298

XL Retinoschisis (IIIB1)

Male

Male

SR2298

XL Retinoschisis (IIIB1)

Male

Male

Visit at age: 12 years

Fundus Photography - Right - 6/21 +1 sc

Exemplar

Visit at age: 69 years

Fundus Photography - Right - 20/50 -1

Exemplar

Fundus Photography - Left - 20/40 -1

Exemplar

Goldmann Visual Field - Right - 20/50 -1

Exemplar

Goldmann Visual Field - Left - 20/40 -1

Exemplar

Optical Coherence Tomography - Right - 20/50 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50 -1

Exemplar

Infrared Fundus Photograph - Left - 20/40 -1

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinoschisis RS1 IVS1-1 G>A   XL
Disease:
Gene:
Allele 1:
IVS1-1 G>A
Allele 2:
 
Inheritance:
XL
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