Case
SR72
Student Mode
Achromatopsia (IA2d)
Male
Male
Hidden
SR72
Student Mode
Achromatopsia (IA2d)
Male
Male
History
This 16 year old male has had reduced vision since 3 months of age when his parents noticed some nystagmus. He was able to see 1 out of 14 pseudo-isochromatic plates with each eye as well as the control plate. He denies photophobia.
Pedigree
| Age at visit: 16 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Achromatopsia | CNGA3 | IVS2+1 G>A | Ala415Pro GCC>CCC | AR |