Case
SR1897
Student Mode
Bardet Biedl Syndrome (IB2)
Male
Male
Hidden
SR1897
Student Mode
Bardet Biedl Syndrome (IB2)
Male
Male
Visit at age: 18 years
Goldmann Visual Field - Right - 20/80 -1
Exemplar
Goldmann Visual Field - Left - 20/100
Exemplar
Visit at age: 42 years
Fundus Photography - Right - 1/200
Exemplar
Fundus Photography - Left - 1/200
Exemplar
Goldmann Visual Field - Right - 1/200
Exemplar
Goldmann Visual Field - Left - 1/200
Exemplar
Optical Coherence Tomography - Right - 1/200
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 1/200
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 1/200
Exemplar
Infrared Fundus Photograph - Left - 1/200
Exemplar
Visit at age: 44 years
Goldmann Visual Field - Right - <1/200
Exemplar
Goldmann Visual Field - Left - <1/200
Exemplar
Optical Coherence Tomography - Right - <1/200
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - <1/200
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - <1/200
Exemplar
Infrared Fundus Photograph - Left - <1/200
Exemplar
Visit at age: 46 years
Optical Coherence Tomography - Right - Count Fingers 1'
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/300
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Count Fingers 1'
Exemplar
Infrared Fundus Photograph - Left - 20/300
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Bardet Biedl Syndrome | BBS10 | Leu90 ins1cT | Leu414Ser TTA>TCA | AR |
Disease:
Gene:
Allele 1:
Leu90 ins1cT
Allele 2:
Leu414Ser TTA>TCA
Inheritance:
AR