Leber congenital amaurosis

 

Leber congenital amaurosis

Definition

This is a rare kind of blindness or severely impaired vision caused by a defect transmitted as an autosomal recessive trait and occurring at birth or shortly thereafter.

This also is called amaurosis congenital of Leber's, congenital retinal blindness, hereditary epithelial aplasia, and retinal aplasia.

Source : Health Central 

 

Organ

This disease affects the retina, which gradually deteriorates.

 

Symptoms

In addition to severe vision loss from birth, a variety of other eye-related abnormalities including roving eye movements, deep-set eyes, and sensitivity to bright light also occur with this disease. Some patients with LCA also experience central nervous system abnormalities such as developmental delay, epilepsy, and motor skill impairment. Because LCA is relatively rare, the frequency of central nervous system complications is unknown.

Source : Retina International

 

Frequency

The prevalence of LCA is 1/50,000 - 1/33,000 live births and accounts for 5% of all retinal dystrophies and 20% of blindness in school age children.

Source : Orphanet 

Causes

A diagnosis of LCA may be based on typical clinical history and findings of an eye examination, and but confirmation of the diagnosis is made using an electroretinogram (ERG). In this test, electrodes are placed on the eyelids and tiny electrical signals generated by the eye in response to light are recorded.

Source : CA Family

 

Evolution

Although the appearance of the retina undergoes marked changes with age, vision usually remains fairly stable through young adult life. Long term visual prognosis remains to be defined. Visual acuity in patients with LCA is usually limited to the level of counting fingers or detecting hand motions or bright lights. Some patients are also extremely sensitive to light (photophobia). Patients with remaining vision are often extremely farsighted.

Source : Retina International

 

Diagnosis

LCA is usually diagnosed by an ophthalmologist based on history and the physical findings on exam. An electroretinogram (ERG) is often utilized to test the function of the rods and cones of the retina and is performed with special equipment. Blood tests for genetic changes can sometimes help make the diagnosis in 50% of cases and help advise about the possibility of having some vision. It can also identify carriers of the condition among siblings and parents.

Source : AAPOS

 

Treatment

Currently LCA is an incurable disease. Treatment is mainly supportive and includes correction of refractive error and use of low-vision aids. Repeated poking and pressing on the eyes should be discouraged. Periodic ophthalmic evaluation and assessment of the presence of amblyopia, glaucoma, or cataract should be achieved. Therapies are presently being investigated, including gene therapy (particularly for RPGRIP and CEP290) and optogenetics (genetic targeting of light-sensing molecules to residual cells in a degenerate retina).

Source : Orphanet 

 

 

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