Leber's Congenital Amaurosis: Understanding the Disease

Leber's eye disease, also known as Leber's congenital amaurosis, causes poor vision or even blindness. It is an inherited condition.

Genetic Inheritance

• Leber's eye disease is generally passed down as an autosomal recessive disease, where each parent gives the child one abnormal gene; in this type of inheritance, a child has a 25 percent of inheriting Leber's.

Low Vision At Birth

• People with Leber's eye disease have very low vision at birth; while there may be not changes in the retina on exam, tests of the retina (ERGs) show little activity in the retinal cells.

Changes in the Retina

• By the teen years, the retinas of people with Leber's show narrowed blood vessels and pigmentary changes; however, the vision remains stable.

Oculo-Digital Reflex

• A common symptom in patients with Leber's is constantly pressing on their eyes with their hands; this is called the oculo-digital reflex.

Other Ocular Symptoms

• Nystagmus (side-to-side jerking of the eye), keratoconus (highly irregularly shaped corneas) and cataracts can be found in people with Leber's eye disease.

Systemic Associations

• Leber's eye disease can be associated with disorders such as epilepsy, developmental delays and other conditions.