Case
SR531
Student Mode
Cohen Syndrome (IB9)
Male
Male
Hidden
SR531
Student Mode
Cohen Syndrome (IB9)
Male
Male
Visit at age: 10 years
Fundus Photography - Right - 20/60 -2
Exemplar
Fundus Photography - Left - 20/70 -1
Exemplar
Optical Coherence Tomography - Right - 20/60 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/70 -1
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/60 -2
Exemplar
Infrared Fundus Photograph - Left - 20/70 -1
Exemplar
Visit at age: 11 years
Optical Coherence Tomography - Right - 10/32
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 10/32
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 10/32
Exemplar
Infrared Fundus Photograph - Left - 10/32
Exemplar
Visit at age: 12 years
Optical Coherence Tomography - Right - 10/32
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 10/32
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 10/32
Exemplar
Infrared Fundus Photograph - Left - 10/32
Exemplar
Visit at age: 14 years
Optical Coherence Tomography - Right - 10/32
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 10/25
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 10/32
Exemplar
Infrared Fundus Photograph - Left - 10/25
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Cohen Syndrome | VPS13B | Arg639Stop CGA>TGA | Deletion Exons 17-19 | AR |
Disease:
Gene:
Allele 1:
Arg639Stop CGA>TGA
Allele 2:
Deletion Exons 17-19
Inheritance:
AR