Congenital stationary night blindness

An inherited eye disorder that is not progressive and principally affects the rod photoreceptors in the retina, impairing night vision.

There may also be moderate to high myopia.

Under good lighting conditions, there is usually no visual deficit.

The disorder is diagnosed by electroretinography.

There are several different types of the disorder which are inherited in an autosomal dominant, autosomal recessive, or X-linked recessive manner.

The X-linked type affects almost exclusively males and accounts for the predominance of males with congenital stationary night blindness.

Children with the disorder may have a fear of the dark.

At least 17 genes are associated.

Genes are affected that are encoded proteins involved in photo transduction, photo receptor to bipolar cell signaling cascades and retinoid recycling.

Leave a Reply

Your email address will not be published. Required fields are marked *