This 7 year old boy had nystagmus in the first 2 weeks of life.
Color Vision: | Could not correctly name any of the Ishihara color plates in either eye. |
---|---|
Refraction OD: | +3.25 +1.00 x 85 |
Refraction OS: | +3.25 +1.00 x 100 |
The clinical features supporting the diagnosis of achromatopsia in this patient include: nystagmus noticed in the first 2 weeks of life; reduced acuity, poor color vision, a normal fundus appearance, a near normal OCT, normally sighted parents and absence of a similarly affected male elsewhere in his mother's family.
Age at visit: 7 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Achromatopsia | CNGB3 | Thr383 del1aC | Thr383 del1aC | AR |