Home > Encyclopedia of Genetic Disorders > Cone-rod dystrophy

Definition

Cone-rod dystrophy (CRD) is a progressive retinal degenerative disease that causes deterioration of the cones and rods in the retina and frequently leads to blindness. Cone-rod dystrophy is also accompanied by amelogenesis imperfecta, an abnormality affecting the teeth.

Description

Cone-rod dystrophy is characterized by all of the following elements: skin pigmentation abnormality; involuntary, rhythmic movements of the eyes (nystagmus); degeneration of vision (optic atrophy); and sensitivity to light (photophobia).

Cone-rod dystrophy can be inherited as either an autosomal dominant or autosomal recessive trait. In its most common form, however, it is usually inherited as an autosomal recessive trait, which means that both parents have one copy of the cone-rod dystrophy