Case
SR527
Student Mode
Type 2 Usher Syndrome (IB1b)
Male
Male
Hidden
SR527
Student Mode
Type 2 Usher Syndrome (IB1b)
Male
Male
Visit at age: 50 years
Fundus Photography - Right - 20/80
Exemplar
Fundus Photography - Left - 20/63 -2
Exemplar
Fundus Montage - Right - 20/80
Exemplar
Fundus Montage - Left - 20/63 -2
Exemplar
Goldmann Visual Field - Right - 20/80
Exemplar
Goldmann Visual Field - Left - 20/63 -2
Exemplar
Optical Coherence Tomography - Right - 20/80
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/63 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/80
Exemplar
Infrared Fundus Photograph - Left - 20/63 -2
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 2 Usher Syndrome | CEP78 | Ser147Leu TCG>TTG | Ser147Leu TCG>TTG | AR |
Disease:
Gene:
Allele 1:
Ser147Leu TCG>TTG
Allele 2:
Ser147Leu TCG>TTG
Inheritance:
AR