Case
SR34
Student Mode
Blue Cone Monochromacy (IA2e)
Male
Male
Hidden
SR34
Student Mode
Blue Cone Monochromacy (IA2e)
Male
Male
Visit at age: 6 years
Fundus Photography - Right - 5/32
Exemplar
Fundus Photography - Left - 5/80
Exemplar
Visit at age: 12 years
Goldmann Visual Field - Right - 20/160
Exemplar
Goldmann Visual Field - Left - 20/250
Exemplar
Visit at age: 14 years
Goldmann Visual Field - Right - 10/80 -2
Exemplar
Goldmann Visual Field - Left - 10/200 sc
Exemplar
Visit at age: 18 years
Fundus Photography - Right - 20/125
Exemplar
Fundus Photography - Left - 20/250 +1 sc
Exemplar
Fundus Montage - Right - 20/125
Exemplar
Fundus Montage - Left - 20/250 +1 sc
Exemplar
Goldmann Visual Field - Right - 20/125
Exemplar
Goldmann Visual Field - Left - 20/250 +1 sc
Exemplar
Optical Coherence Tomography - Right - 20/125
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/250 +1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125
Exemplar
Infrared Fundus Photograph - Left - 20/250 +1 sc
Exemplar
Visit at age: 20 years
Goldmann Visual Field - Right - 20/125 +1
Exemplar
Goldmann Visual Field - Left - 20/200 -2
Exemplar
Optical Coherence Tomography - Right - 20/125 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/200 -2
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/125 +1
Exemplar
Infrared Fundus Photograph - Left - 20/200 -2
Exemplar
Visit at age: 24 years
Optical Coherence Tomography - Right - 20/160 -2
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 10/200
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/160 -2
Exemplar
Infrared Fundus Photograph - Left - 10/200
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Blue Cone Monochromacy | L/M OPSIN Cluster | Promoter Deletion LCR | XL |
Disease:
Gene:
Allele 1:
Promoter Deletion LCR
Allele 2:
Inheritance:
XL