An inherited retinal disorder (IRD) alters the structure and function of the retina and impairs vision.

In some children with IRDs, visual impairment is mild, but in others it is more severe. IRDs are rare. There are many types. Most IRDs affect the light-sensitive cells that are known as photoreceptors, reducing or preventing responses to light in the retina and leading to vision impairment. IRDs are inherited and cannot be prevented. Some are degenerative, meaning they will worsen over time, but some remain stable throughout life.

Most Common

Leber congenital amaurosis (LCA)/early onset retinal degeneration

Leber congenital amaurosis (LCA) causes severe visual impairment that starts as early as infancy. Children with LCA may also have extreme farsightedness and crossed eyes. An FDA-approved treatment for the RPE65 form of LCA helps with vision.

X-linked retinitis pigmentosa (RP)

Retinitis pigmentosa is a group of related sight disorders. The common attribute is the slow deterioration of the photoreceptor cells in the retina that respond to light. Loss of night vision is often an early sign of X-linked RP, along with some visual acuity deficits, followed by the loss of peripheral vision.

Achromatopsia

Children with achromatopsia have limited or no color vision, low vision acuity (typically at a legally blind level), and extreme sensitivity to light. Achromatopsia is different from congenital “common” color vision deficiency (sometimes known as color blindness) in that it also causes low vision and sensitivity to bright light. Fortunately, symptoms usually do not worsen over time.

Stargardt disease

Stargardt disease damages the macula, a part of the retina that provides straight-ahead vision — the vision for seeing details such as small letters. The onset of the disease is typically during childhood, but it might not be detected until adulthood. It causes the loss of the central vision field. The loss of all vision is uncommon.

Cone-rod dystrophy (CRD)

Cone-rod dystrophy is a group of related IRDs that involve the deterioration of the photoreceptors that are known as rods and cones. Vision loss occurs over time, usually starting in childhood with symptoms such as poor vision and sensitivity to light. Later symptoms include blind spots in the center of vision, loss of peripheral vision, and difficulty distinguishing colors.

Choroideremia

This condition affects males and is caused by a loss of retinal cells. Choroideremia causes progressive vision loss: usually night blindness in childhood, followed by a gradual loss of peripheral vision, and eventually an inability to make out details. Tunnel vision or complete blindness by adulthood are possible.

X-linked retinoschisis

This condition affects males and causes an early loss of central vision because the retinal layers split apart. Vision may slowly deteriorate with age.

Congenital stationary blindness

Typical features are early severe nearsightedness (high myopia), low vision even with glasses on, and noticeable difficulty seeing in dimly lit conditions. There are many forms of congenital stationary night blindness; the specific form is determined through genetic testing.

Symptoms and Causes