Loading...

SR1585

XL Retinoschisis (IIIB1)

Male

Male

SR1585

XL Retinoschisis (IIIB1)

Male

Male

Visit at age: 7 years

Fundus Photography - Right - 20/80 +1

Exemplar

Fundus Photography - Left - 20/125 +2

Exemplar

Goldmann Visual Field - Right - 20/80 +1

Exemplar

Goldmann Visual Field - Left - 20/125 +2

Exemplar

Optical Coherence Tomography - Right - 20/80 +1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/125 +2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80 +1

Exemplar

Infrared Fundus Photograph - Left - 20/125 +2

Exemplar

Visit at age: 9 years

Goldmann Visual Field - Right - 20/80 +2

Exemplar

Goldmann Visual Field - Left - 20/80 -1

Exemplar

Optical Coherence Tomography - Right - 20/80 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/80 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80 +2

Exemplar

Infrared Fundus Photograph - Left - 20/80 -1

Exemplar

Swept-Source OCT - Right - 20/80 +2

Exemplar

Swept-Source OCT - Left - 20/80 -1

Exemplar

Visit at age: 10 years

Goldmann Visual Field - Right - 20/80 +2

Exemplar

Goldmann Visual Field - Left - 20/100 +1

Exemplar

Optical Coherence Tomography - Right - 20/80 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/100 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80 +2

Exemplar

Infrared Fundus Photograph - Left - 20/100 +1

Exemplar

Swept-Source OCT - Right - 20/80 +2

Exemplar

Swept-Source OCT - Left - 20/100 +1

Exemplar

Visit at age: 11 years

Goldmann Visual Field - Right - 20/80 +1

Exemplar

Goldmann Visual Field - Left - 20/100

Exemplar

Optical Coherence Tomography - Right - 20/80 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/100

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80 +1

Exemplar

Infrared Fundus Photograph - Left - 20/100

Exemplar

Swept-Source OCT - Right - 20/80 +1

Exemplar

Swept-Source OCT - Left - 20/100

Exemplar

Visit at age: 12 years

Goldmann Visual Field - Right - 20/63

Exemplar

Goldmann Visual Field - Left - 20/100 +1

Exemplar

Optical Coherence Tomography - Right - 20/63

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/100 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/63

Exemplar

Infrared Fundus Photograph - Left - 20/100 +1

Exemplar

Swept-Source OCT - Right - 20/63

Exemplar

Swept-Source OCT - Left - 20/100 +1

Exemplar

Visit at age: 14 years

Goldmann Visual Field - Right - 20/80

Exemplar

Goldmann Visual Field - Left - 20/100

Exemplar

Optical Coherence Tomography - Right - 20/80

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/100

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80

Exemplar

Infrared Fundus Photograph - Left - 20/100

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinoschisis RS1 Arg141Cys CGC>TGC   XL
Disease:
Gene:
Allele 1:
Arg141Cys CGC>TGC
Allele 2:
 
Inheritance:
XL
Cite this case