Case
SR540
Student Mode
Bardet Biedl Syndrome (IB2)
Female
Female
Hidden
SR540
Student Mode
Bardet Biedl Syndrome (IB2)
Female
Female
Visit at age: 29 years
Fundus Photography - Right - 5/180
Exemplar
Fundus Photography - Left - 5/225
Exemplar
Fundus Montage - Right - 5/180
Exemplar
Fundus Montage - Left - 5/225
Exemplar
Goldmann Visual Field - Right - 5/180
Exemplar
Goldmann Visual Field - Left - 5/225
Exemplar
Optical Coherence Tomography - Right - 5/180
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 5/225
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 5/180
Exemplar
Infrared Fundus Photograph - Left - 5/225
Exemplar
Blue Autofluorescence - Right - 5/180
Exemplar
Visit at age: 31 years
Optical Coherence Tomography - Right - 5/225
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 5/300
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 5/225
Exemplar
Infrared Fundus Photograph - Left - 5/300
Exemplar
Visit at age: 33 years
Goldmann Visual Field - Right - 5/225
Exemplar
Goldmann Visual Field - Left - 5/300
Exemplar
Optical Coherence Tomography - Right - 5/225
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 5/300
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 5/225
Exemplar
Infrared Fundus Photograph - Left - 5/300
Exemplar
Visit at age: 36 years
Goldmann Visual Field - Right - Hand Motions
Exemplar
Goldmann Visual Field - Left - Hand Motions
Exemplar
Optical Coherence Tomography - Right - Hand Motions
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Hand Motions
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Hand Motions
Exemplar
Infrared Fundus Photograph - Left - Hand Motions
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Bardet Biedl Syndrome | BBS1 | Met390Arg ATG>AGG | Met390Arg ATG>AGG | AR |
Disease:
Gene:
Allele 1:
Met390Arg ATG>AGG
Allele 2:
Met390Arg ATG>AGG
Inheritance:
AR