Leber congenital amaurosis (LCA) is a severe inherited retinal disease that leads to early vision loss in childhood. Caused by mutations in any one of at least 18 different genes, LCA results in the degeneration of photoreceptor cells in the retina. ThisPhotoreceptor degeneration results in severe visual impairment in infants and young children. While symptoms may vary, LCA is typically characterized by poor vision from birth or within the first few months of life with nystagmus and minimal or no detectable pupil response to light.

Signs and Symptoms of Leber Congenital Amaurosis

The main signs and symptoms of LCA include:

Poor vision from birth or within the first year of life. Babies with LCA may have trouble seeing faces,Following objects with their eyes, and visually tracking movement. They are often poorly mobile and slow to develop independent walking.

Nystagmus. Nystagmus refers to involuntary, rapid shaking movements of the eyes. Babies with Leber Congenital Amaurosis often have noticeably nystagmoid eye movements.

Reduced or absent pupillary reaction to light. The pupils fail to constrict when exposed to bright light as expected.

Some degree of early-onset retinal degeneration. Specialized retinal imaging can detect abnormalities in the retina from an early age including attenuated retinal blood vessels and waxy pale optic discs.

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