Case
SR1930
Student Mode
Type 3 Usher Syndrome (IB1c)
Female
Female
Hidden
SR1930
Student Mode
Type 3 Usher Syndrome (IB1c)
Female
Female
Visit at age: 10 years
Fundus Photography - Right - 10/160
Exemplar
Fundus Photography - Left - 10/125
Exemplar
Fundus Montage - Right - 10/160
Exemplar
Fundus Montage - Left - 10/125
Exemplar
Optical Coherence Tomography - Right - 10/160
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 10/125
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/160
Exemplar
Infrared Fundus Photograph - Left - 10/125
Exemplar
Visit at age: 13 years
Goldmann Visual Field - Right - 10/160 sc
Exemplar
Goldmann Visual Field - Left - 10/160 -1 sc
Exemplar
Optical Coherence Tomography - Right - 10/160 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 10/160 -1 sc
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 10/160 sc
Exemplar
Infrared Fundus Photograph - Left - 10/160 -1 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 3 Usher Syndrome | HARS1 | Tyr454Ser TAC>TCC | Tyr454Ser TAC>TCC | AR |
Disease:
Gene:
Allele 1:
Tyr454Ser TAC>TCC
Allele 2:
Tyr454Ser TAC>TCC
Inheritance:
AR