Leber Congenital Amaurosis (LCA)

Leber congenital amaurosis is a group of rare inherited retinal conditions that cause severe visual impairment or blindness from birth or early infancy.

Common symptoms

Very poor vision from the first months of life, nystagmus, sensitivity to light, and sometimes the habit of pressing or rubbing the eyes.

Description

Leber congenital amaurosis (LCA) is caused by changes in any one of a number of genes involved in the function of the retina. The photoreceptor cells, which normally convert light into electrical signals, do not work properly from birth.

Children with LCA usually show signs of very poor vision in the first months of life, such as lack of visual attention, roving eye movements, and an unusual response to light. Some forms are associated with wider developmental or kidney conditions, so a thorough assessment is important.

Treatment options depend on the specific gene involved. One form, caused by changes in the RPE65 gene, can be treated with an approved gene therapy. Research into other types is ongoing, and early educational, mobility, and family support are key to helping a child develop.