Aryl hydrocarbon receptor deficiency causes infantile nystagmus and foveal hypoplasia

Takeaway

  • A homozygous loss-of-function mutation in the aryl hydrocarbon receptor (AHR) gene causes infantile nystagmus and foveal hypoplasia.

Why this matters

    Although individuals with nystagmus due to AHR gene mutation are extremely rare, there is evidence that AHR deficiency can cause infantile nystagmus and foveal hypoplasia.