Home > Encyclopedia of Genetic Disorders > Norrie disease

Definition

Norrie disease (ND) is a severe form of blindness that is evident at birth or within the first few months of life and may involve deafness, mental retardation, and behavioral problems.

Description

ND was first described in the 1920s and 1930s as an inherited form of blindness affecting only males. Recognizable changes in certain parts of the eye were identified that lead to a wasting away or shrinking of the eye over time.

At birth, a grayish yellow, tumor-like mass is observed to cover or replace the retina of the eye, whereas the remainder of the eye is usually of normal shape, size, and form. Over time, changes in this mass and progressive deterioration of the lens, iris, and cornea cause the eye to appear milky in color and to become very small and shrunken. ND is always...