Case
SR94
Student Mode
Type 1 Usher Syndrome (IB1a)
Male
Male
Hidden
SR94
Student Mode
Type 1 Usher Syndrome (IB1a)
Male
Male
Visit at age: 32 years
Fundus Photography - Right - 5/120 sc
Exemplar
Fundus Photography - Left - Light Perception
Exemplar
Goldmann Visual Field - Right - 5/120 sc
Exemplar
Optical Coherence Tomography - Right - 5/120 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 5/120 sc
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Visit at age: 35 years
Fundus Photography - Right - Hand Motion
Exemplar
Fundus Photography - Left - Light Perception
Exemplar
Fundus Montage - Right - Hand Motion
Exemplar
Fundus Montage - Left - Light Perception
Exemplar
Goldmann Visual Field - Right - Hand Motion
Exemplar
Optical Coherence Tomography - Right - Hand Motion
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Hand Motion
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Visit at age: 36 years
Goldmann Visual Field - Right - Hand Motion 1'
Exemplar
Goldmann Visual Field - Left - Hand Motion 1'
Exemplar
Optical Coherence Tomography - Right - Hand Motion 1'
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Hand Motion 1'
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Hand Motion 1'
Exemplar
Infrared Fundus Photograph - Left - Hand Motion 1'
Exemplar
Visit at age: 38 years
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 1 Usher Syndrome | USH1C | Val72Val GTG>GTA | Val72Val GTG>GTA | AR |
Disease:
Gene:
Allele 1:
Val72Val GTG>GTA
Allele 2:
Val72Val GTG>GTA
Inheritance:
AR