SR25

XL Retinoschisis (IIIB1)

Male

Male

SR25

XL Retinoschisis (IIIB1)

Male

Male

Visit at age: 11 years

Fundus Photography - Right - 20/80 -2

Exemplar

Fundus Photography - Left - 20/80 -2

Exemplar

Goldmann Visual Field - Right - 20/80 -2

Exemplar

Goldmann Visual Field - Left - 20/80 -2

Exemplar

Optical Coherence Tomography - Right - 20/80 -2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/80 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80 -2

Exemplar

Infrared Fundus Photograph - Left - 20/80 -2

Exemplar

Visit at age: 12 years

Goldmann Visual Field - Right - 20/60 +2

Exemplar

Goldmann Visual Field - Left - 20/60 +2

Exemplar

Optical Coherence Tomography - Right - 20/60 +2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/60 +2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/60 +2

Exemplar

Infrared Fundus Photograph - Left - 20/60 +2

Exemplar

Visit at age: 12 years (Visit 2)

Optical Coherence Tomography - Right - 20/60 +2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/70

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/60 +2

Exemplar

Infrared Fundus Photograph - Left - 20/70

Exemplar

Visit at age: 13 years

Optical Coherence Tomography - Right - 20/70 sc

Exemplar / OCT Stack
OCT Stack

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

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/70 sc

Exemplar

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

Exemplar

Visit at age: 13 years (Visit 2)

Optical Coherence Tomography - Right - 20/60 -2 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/80 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/60 -2 sc

Exemplar

Infrared Fundus Photograph - Left - 20/80 sc

Exemplar

Visit at age: 14 years

Optical Coherence Tomography - Right - 20/70 -1 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/70 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/70 -1 sc

Exemplar

Infrared Fundus Photograph - Left - 20/70 sc

Exemplar

Visit at age: 17 years

Fundus Photography - Right - 20/63 -2

Exemplar

Fundus Photography - Left - 20/50 -2

Exemplar

Goldmann Visual Field - Right - 20/63 -2

Exemplar

Goldmann Visual Field - Left - 20/50 -2

Exemplar

Optical Coherence Tomography - Right - 20/63 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/63 -2

Exemplar

Infrared Fundus Photograph - Left - 20/50 -2

Exemplar

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinoschisis RS1 Pro203Arg CCG>CGG   XL
Disease:
Gene:
Allele 1:
Pro203Arg CCG>CGG
Allele 2:
 
Inheritance:
XL
Cite this case