Case
SR1028
Student Mode
Usher Syndrome (IB1)
Female
Female
Hidden
SR1028
Student Mode
Usher Syndrome (IB1)
Female
Female
Visit at age: 10 years
Fundus Photography - Right - 20/80 -1
Exemplar
Fundus Photography - Left - 20/80
Exemplar
Fundus Montage - Right - 20/80 -1
Exemplar
Fundus Montage - Left - 20/80
Exemplar
Goldmann Visual Field - Right - 20/80 -1
Exemplar
Goldmann Visual Field - Left - 20/80
Exemplar
Optical Coherence Tomography - Right - 20/80 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/80 -1
Exemplar
Infrared Fundus Photograph - Left - 20/80
Exemplar
Visit at age: 11 years
Goldmann Visual Field - Right - 20/100
Exemplar
Goldmann Visual Field - Left - 20/80 -1
Exemplar
Optical Coherence Tomography - Right - 20/100
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100
Exemplar
Infrared Fundus Photograph - Left - 20/80 -1
Exemplar
Visit at age: 12 years
Goldmann Visual Field - Right - 20/100
Exemplar
Goldmann Visual Field - Left - 20/80 -1
Exemplar
Optical Coherence Tomography - Right - 20/100
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100
Exemplar
Infrared Fundus Photograph - Left - 20/80 -1
Exemplar
Visit at age: 13 years
Goldmann Visual Field - Right - 20/125 -1
Exemplar
Goldmann Visual Field - Left - 20/125
Exemplar
Optical Coherence Tomography - Right - 20/125 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 -1
Exemplar
Infrared Fundus Photograph - Left - 20/125
Exemplar
Visit at age: 14 years
Goldmann Visual Field - Right - 10/600 sc
Exemplar
Goldmann Visual Field - Left - 10/600 sc
Exemplar
Optical Coherence Tomography - Right - 10/600 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 10/600 sc
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 10/600 sc
Exemplar
Infrared Fundus Photograph - Left - 10/600 sc
Exemplar
Visit at age: 16 years
Goldmann Visual Field - Right - Light Perception
Exemplar
Goldmann Visual Field - Left - Hand Motion 1'
Exemplar
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
Optical Coherence Tomography - Left - Hand Motion 1'
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - Hand Motion 1'
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Usher Syndrome | TUBB4B | Glu410Lys GAG>AAG | AD |