Case
SR1902
Student Mode
Type 2 Usher Syndrome (IB1b)
Female
Female
Hidden
SR1902
Student Mode
Type 2 Usher Syndrome (IB1b)
Female
Female
Visit at age: 53 years
Fundus Photography - Right - 20/40 +1
Exemplar
Fundus Photography - Left - 20/80 -2
Exemplar
Fundus Montage - Right - 20/40 +1
Exemplar
Fundus Montage - Left - 20/80 -2
Exemplar
Goldmann Visual Field - Right - 20/40 +1
Exemplar
Goldmann Visual Field - Left - 20/80 -2
Exemplar
Optical Coherence Tomography - Right - 20/40 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 +1
Exemplar
Infrared Fundus Photograph - Left - 20/80 -2
Exemplar
Visit at age: 54 years
Goldmann Visual Field - Right - 20/40
Exemplar
Goldmann Visual Field - Left - 20/80 -2
Exemplar
Optical Coherence Tomography - Right - 20/40
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40
Exemplar
Infrared Fundus Photograph - Left - 20/80 -2
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 2 Usher Syndrome | ADGRV1 | Arg211 del2ggcAG | IVS66-2 A>T | AR |
Disease:
Gene:
Allele 1:
Arg211 del2ggcAG
Allele 2:
IVS66-2 A>T
Inheritance:
AR