Case
SR114
Student Mode
Bardet Biedl Syndrome (IB2)
Male
Male
Hidden
SR114
Student Mode
Bardet Biedl Syndrome (IB2)
Male
Male
Visit at age: 21 years
Fundus Photography - Right - 5/180 sc
Exemplar
Fundus Photography - Left - 5/140 sc
Exemplar
Fundus Montage - Right - 5/180 sc
Exemplar
Fundus Montage - Left - 5/140 sc
Exemplar
Goldmann Visual Field - Right - 5/180 sc
Exemplar
Goldmann Visual Field - Left - 5/140 sc
Exemplar
Optical Coherence Tomography - Right - 5/180 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 5/140 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 5/180 sc
Exemplar
Infrared Fundus Photograph - Left - 5/140 sc
Exemplar
Visit at age: 22 years
Goldmann Visual Field - Right - 10/300
Exemplar
Goldmann Visual Field - Left - 10/350
Exemplar
Optical Coherence Tomography - Right - 10/300
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/350
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/300
Exemplar
Infrared Fundus Photograph - Left - 10/350
Exemplar
Visit at age: 23 years
Goldmann Visual Field - Right - 10/400 sc
Exemplar
Goldmann Visual Field - Left - 10/700 sc
Exemplar
Optical Coherence Tomography - Right - 10/400 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 10/700 sc
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 10/400 sc
Exemplar
Infrared Fundus Photograph - Left - 10/700 sc
Exemplar
Visit at age: 27 years
Goldmann Visual Field - Right - <1/700 sc
Exemplar
Goldmann Visual Field - Left - 2/80 sc
Exemplar
Optical Coherence Tomography - Right - <1/700 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 2/80 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - <1/700 sc
Exemplar
Infrared Fundus Photograph - Left - 2/80 sc
Exemplar
Visit at age: 29 years
Goldmann Visual Field - Right - <1/700 sc
Exemplar
Goldmann Visual Field - Left - <1/700 sc
Exemplar
Optical Coherence Tomography - Right - <1/700 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - <1/700 sc
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - <1/700 sc
Exemplar
Infrared Fundus Photograph - Left - <1/700 sc
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 | Arg277Lys AG(G)>AA(G) | AR |
Disease:
Gene:
Allele 1:
Met390Arg ATG>AGG
Allele 2:
Arg277Lys AG(G)>AA(G)
Inheritance:
AR