SR199
Type 1 Usher Syndrome (IB1a)
Male
Male
SR199
Type 1 Usher Syndrome (IB1a)
Male
Male
Visit at age: 9 years
Fundus Photography - Right - 20/25 -1
Exemplar
Fundus Photography - Left - 20/25
Exemplar
Goldmann Visual Field - Right - 20/25 -1
Exemplar
Goldmann Visual Field - Left - 20/25
Exemplar
Visit at age: 12 years
Goldmann Visual Field - Right - 20/25 +1
Exemplar
Goldmann Visual Field - Left - 20/30 -2
Exemplar
Visit at age: 14 years
Goldmann Visual Field - Right - 20/20 -3
Exemplar
Goldmann Visual Field - Left - 20/25 -1
Exemplar
Visit at age: 16 years
Goldmann Visual Field - Right - 20/25 +1
Exemplar
Goldmann Visual Field - Left - 20/30 +2
Exemplar
Optical Coherence Tomography - Right - 20/25 +1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/30 +2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25 +1
Exemplar
Infrared Fundus Photograph - Left - 20/30 +2
Exemplar
Visit at age: 17 years
Fundus Photography - Right - 20/32 -2
Exemplar
Fundus Photography - Left - 20/32 -1
Exemplar
Fundus Montage - Right - 20/32 -2
Exemplar
Fundus Montage - Left - 20/32 -1
Exemplar
Goldmann Visual Field - Right - 20/32 -2
Exemplar
Goldmann Visual Field - Left - 20/32 -1
Exemplar
Optical Coherence Tomography - Right - 20/32 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 -2
Exemplar
Infrared Fundus Photograph - Left - 20/32 -1
Exemplar
Visit at age: 19 years
Goldmann Visual Field - Right - 20/25
Exemplar
Goldmann Visual Field - Left - 20/25 -1
Exemplar
Optical Coherence Tomography - Right - 20/25
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25
Exemplar
Infrared Fundus Photograph - Left - 20/25 -1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 1 Usher Syndrome | CDH23 | Arg1751Gln CGG>CAG | Arg1751Gln CGG>CAG | AR |
Disease:
Gene:
Allele 1:
Arg1751Gln CGG>CAG
Allele 2:
Arg1751Gln CGG>CAG
Inheritance:
AR