This 8 year old boy had nystagmus in the first year of life.
Color Vision: | Correctly named 2/14 Ishihara plates OU |
---|---|
Refraction OD: | Plano +1.25 x 90 |
Refraction OS: | -0.50 +2.75 x 80 |
The clinical features supporting the diagnosis of incomplete achromatopsia in this patient include: nystagmus noticed in the first year of life; reduced acuity, poor color vision, a normal fundus appearance, a normal OCT, normally sighted parents and absence of a similarly affected male elsewhere in his mother's family.
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Achromatopsia | CNGB3 | Thr383 del1aC | Thr383 del1aC | AR |