Case
SR548
Student Mode
Type 1 Usher Syndrome (IB1a)
Female
Female
Hidden
SR548
Student Mode
Type 1 Usher Syndrome (IB1a)
Female
Female
Visit at age: 32 years
Fundus Photography - Right - 20/25
Exemplar
Fundus Photography - Left - 20/32 -1
Exemplar
Fundus Montage - Right - 20/25
Exemplar
Fundus Montage - Left - 20/32 -1
Exemplar
Goldmann Visual Field - Right - 20/25
Exemplar
Goldmann Visual Field - Left - 20/32 -1
Exemplar
Optical Coherence Tomography - Right - 20/25
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25
Exemplar
Infrared Fundus Photograph - Left - 20/32 -1
Exemplar
Visit at age: 34 years
Goldmann Visual Field - Right - 20/25
Exemplar
Goldmann Visual Field - Left - 20/25
Exemplar
Optical Coherence Tomography - Right - 20/25
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25
Exemplar
Infrared Fundus Photograph - Left - 20/25
Exemplar
Visit at age: 38 years
Fundus Photography - Right - 20/30 -1
Exemplar
Fundus Photography - Left - 20/30
Exemplar
Fundus Montage - Right - 20/30 -1
Exemplar
Fundus Montage - Left - 20/30
Exemplar
Optical Coherence Tomography - Right - 20/30 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/30
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/30 -1
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 | MYO7A | IVS27-1 G>C | Met946 del1atG | AR |
Disease:
Gene:
Allele 1:
IVS27-1 G>C
Allele 2:
Met946 del1atG
Inheritance:
AR