Leber congenital tapetoretinal degeneration

Total or nearly total blindness present at birth or shortly thereafter. The fundus may appear normal at birth but pigmentary changes similar to those seen in retinitis pigmentosa take place later in life. Ocular complications may include atrophic changes, cataract, keratoconus, absence of the rods and cones, hyperopia, microphthalmia, optic disk edema, nystagmus, photophobia, and Enophthalmos may occur due to digital self stimulation. Some patients show psychomotor retardation, sensory hearing loss, hypotonia, and various neurological disorders.