Leber congenital amaurosis (LCA) accounts for approximately 15 % of congenital blindness. This largely recessively inherited disorder manifests with signs of very poor visual function and roving eye movements or nystagmus. Eye-poking or eye-rubbing, the oculodigital sign, may be present and may eventually lead to sunken orbits, cataract and keratoconus. The majority of patients have normal fundi at presentation, but disc pallor, vessel attenuation and pigmentary changes may follow. The ERG is typically severely reduced or undetectable from early infancy (Fig. 9.2B).
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