Case
SR566
Student Mode
Type 2 Usher Syndrome (IB1b)
Male
Male
Hidden
SR566
Student Mode
Type 2 Usher Syndrome (IB1b)
Male
Male
Visit at age: 53 years
Fundus Photography - Right - 20/100 -1 sc
Exemplar
Fundus Photography - Left - 20/400 sc
Exemplar
Goldmann Visual Field - Right - 20/100 -1 sc
Exemplar
Goldmann Visual Field - Left - 20/400 sc
Exemplar
Visit at age: 56 years
Goldmann Visual Field - Right - 20/150 sc
Exemplar
Goldmann Visual Field - Left - Hand Motion sc
Exemplar
Visit at age: 58 years
Optical Coherence Tomography - Right - 20/150
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/150
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Visit at age: 60 years
Fundus Photography - Right - 20/250 sc
Exemplar
Fundus Photography - Left - No Light Perception
Exemplar
Goldmann Visual Field - Right - 20/250 sc
Exemplar
Optical Coherence Tomography - Right - 20/250 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - No Light Perception
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/250 sc
Exemplar
Infrared Fundus Photograph - Left - No Light Perception
Exemplar
Visit at age: 61 years
Goldmann Visual Field - Right - 20/300 sc
Exemplar
Optical Coherence Tomography - Right - 20/300 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - No Light Perception
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/300 sc
Exemplar
Infrared Fundus Photograph - Left - No Light Perception
Exemplar
Visit at age: 65 years
Optical Coherence Tomography - Right - 20/250 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - No Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/250 sc
Exemplar
Infrared Fundus Photograph - Left - No Light Perception
Exemplar
Visit at age: 66 years
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - No Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - No Light Perception
Exemplar
Visit at age: 68 years
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - No Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - No Light Perception
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 2 Usher Syndrome | USH2A | Trp3955Stop TGG>TAG | Thr1099 del2acaAC | AR |
Disease:
Gene:
Allele 1:
Trp3955Stop TGG>TAG
Allele 2:
Thr1099 del2acaAC
Inheritance:
AR