Leber congenital amaurosis 18 (LCA18) is an inherited retinal dystrophy that presents with a severe visual impairment within the first year of life. LCA is characterized by night blindness, constricted visual fields, narrowed vessels, bone-spicule pigmentation in midperiphery of retina, pigment deposits in macular region, and macular pattern dystrophy in some patients. Cardinal features of LCA18 include photophilia, high hyperopia, and a normal or near normal fundus examination. In addition, parents report profound initial visual impairment that improves with time.
There is no substantial treatment for LCA. Care is supportive. Parents should be referred to programs for the visually impaired child within their state or locality. Correction of refractive error in the affected individuals is beneficial.