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Congenital anomalies are also known as birth defects, congenital disorders or congenital malformations. Congenital anomalies can be defined as structural or functional anomalies (e.g. metabolic disorders) that occur during intrauterine life and can be identified prenatally, at birth or later in life.
Leber's Congenital Amaurosis (LCA) is a rare genetic disorder in which retinal dysfunction causes vision loss, often from birth. The extent of vision loss varies from patient to patient, but can be quite severe (with little to no light perception).n most cases, LCA is considered a degenerative disease. However, the extent of that degeneration depends on the type of LCA your child has. For some types of LCA, however, vision (or lack of vision) remains stable.