Case
SR447
Student Mode
Type 1 Usher Syndrome (IB1a)
Female
Female
Hidden
SR447
Student Mode
Type 1 Usher Syndrome (IB1a)
Female
Female
Visit at age: 46 years
Fundus Photography - Right - 20/32
Exemplar
Fundus Photography - Left - 20/32
Exemplar
Fundus Montage - Right - 20/32
Exemplar
Goldmann Visual Field - Right - 20/32
Exemplar
Goldmann Visual Field - Left - 20/32
Exemplar
Optical Coherence Tomography - Right - 20/32
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32
Exemplar
Infrared Fundus Photograph - Left - 20/32
Exemplar
Visit at age: 47 years
Optical Coherence Tomography - Right - 20/32 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 -2
Exemplar
Infrared Fundus Photograph - Left - 20/32 -1
Exemplar
Visit at age: 53 years
Goldmann Visual Field - Right - 20/40
Exemplar
Goldmann Visual Field - Left - 20/30
Exemplar
Optical Coherence Tomography - Right - 20/40
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/30
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40
Exemplar
Infrared Fundus Photograph - Left - 20/30
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 1 Usher Syndrome | PCDH15 | Arg245Stop CGA>TGA | Arg245Stop CGA>TGA | AR |
Disease:
Gene:
Allele 1:
Arg245Stop CGA>TGA
Allele 2:
Arg245Stop CGA>TGA
Inheritance:
AR