Case
SR428
Student Mode
Type 2 Usher Syndrome (IB1b)
Female
Female
Hidden
SR428
Student Mode
Type 2 Usher Syndrome (IB1b)
Female
Female
Visit at age: 33 years
Fundus Photography - Right - 20/40
Exemplar
Fundus Photography - Left - 20/32 -2
Exemplar
Fundus Montage - Right - 20/40
Exemplar
Fundus Montage - Left - 20/32 -2
Exemplar
Goldmann Visual Field - Right - 20/40
Exemplar
Goldmann Visual Field - Left - 20/32 -2
Exemplar
Optical Coherence Tomography - Right - 20/40
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40
Exemplar
Infrared Fundus Photograph - Left - 20/32 -2
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 2 Usher Syndrome | USH2A | Cys536Arg TGC>CGC | Trp3521Arg TGG>CGG | AR |
Disease:
Gene:
Allele 1:
Cys536Arg TGC>CGC
Allele 2:
Trp3521Arg TGG>CGG
Inheritance:
AR