Leber congenital amaurosis: A integrative review

Leber’s Congenital Amaurosis (LCA) is an autosomal recessive eye disease, representing the most severe dystrophy of the retina, in which a genetic defect causes significant functional impairment in the retinal photoreceptors. It was first described in 1869 and is currently responsible for about 20% of cases of blindness in school-age children and for the involvement of 4.5 million people worldwide, with inbreeding populations or in isolated communities where the frequency disease increases considerably. In addition to the severe loss of visual acuity since birth, these patients have a variety of other eye disorders, such as photophobia, nictalpia and keratoconus, as well as several anomalies of the retina, such as chorio-retinal degeneration and atrophy, maculopathy and pseudopapiledema of the optic disc. It is also possible to find changes in the central nervous system associated with the LCA, such as developmental delay and impaired motor ability. Thus, using data from the literature, this review work aims to clarify the main diagnostic methods and most effective forms of treatment today.