Case
SR343
Student Mode
Bardet Biedl Syndrome (IB2)
Male
Male
Hidden
SR343
Student Mode
Bardet Biedl Syndrome (IB2)
Male
Male
Visit at age: 14 years
Fundus Photography - Right - 20/40 -2
Exemplar
Fundus Photography - Left - 20/40
Exemplar
Fundus Montage - Right - 20/40 -2
Exemplar
Fundus Montage - Left - 20/40
Exemplar
Goldmann Visual Field - Right - 20/40 -2
Exemplar
Goldmann Visual Field - Left - 20/40
Exemplar
Optical Coherence Tomography - Right - 20/40 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -2
Exemplar
Infrared Fundus Photograph - Left - 20/40
Exemplar
Visit at age: 16 years
Goldmann Visual Field - Right - 20/70
Exemplar
Goldmann Visual Field - Left - 20/50 -1
Exemplar
Optical Coherence Tomography - Right - 20/70
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/70
Exemplar
Infrared Fundus Photograph - Left - 20/50 -1
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 | Leu75 del2ccaCT | AR |
Disease:
Gene:
Allele 1:
Met390Arg ATG>AGG
Allele 2:
Leu75 del2ccaCT
Inheritance:
AR