Case
SR487
Student Mode
Type 1 Usher Syndrome (IB1a)
Female
Female
Hidden
SR487
Student Mode
Type 1 Usher Syndrome (IB1a)
Female
Female
Visit at age: 32 years
Fundus Photography - Right - 20/50
Exemplar
Fundus Photography - Left - 20/50
Exemplar
Fundus Montage - Right - 20/50
Exemplar
Fundus Montage - Left - 20/50
Exemplar
Goldmann Visual Field - Right - 20/50
Exemplar
Goldmann Visual Field - Left - 20/50
Exemplar
Optical Coherence Tomography - Right - 20/50
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50
Exemplar
Infrared Fundus Photograph - Left - 20/50
Exemplar
Visit at age: 33 years
Goldmann Visual Field - Right - 20/63
Exemplar
Goldmann Visual Field - Left - 20/63
Exemplar
Optical Coherence Tomography - Right - 20/63
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/63
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/63
Exemplar
Infrared Fundus Photograph - Left - 20/63
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 1 Usher Syndrome | MYO7A | IVS4+2 T>C | IVS4+2 T>C | AR |
Disease:
Gene:
Allele 1:
IVS4+2 T>C
Allele 2:
IVS4+2 T>C
Inheritance:
AR