Case
SR34
Student Mode
Blue Cone Monochromacy (IA2e)
Male
Male
Hidden
SR34
Student Mode
Blue Cone Monochromacy (IA2e)
Male
Male
Highlighted Images
| Age at visit: 18 years | OD | OS |
|---|---|
History
This 18 year old man was first noticed to have nystagmus and decreased visual acuity at nine months of age. He does have some photophobia and feels that his vision is perfectly normal in dim light.
Pedigree
| Age at visit: 6 years |
| Age at visit: 18 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 20 years |
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