RETINAL DYSTROPHIES AND SYNDROMES
Ocular Manifestations of Neuronal Ceroid Lipofuscinosis
Neuronal ceroid lipofuscinosis (NCL) is a neurodegenerative disorder caused by dysregulated sphingolipid metabolism, leading to progressive and severe accumulation of lipofuscins in cells of the brain and other tissues. Lipofuscinoses are inherited as autosomal recessive traits.
There are three types: adult (Kuf´s disease), juvenile (Batten disease), and late infantile (Jansky-Bielschowsky disease). All childhood forms of ceroid lipofuscinosis are fatal and their manifestations include epileptic seizures, loss of vision, ataxia, loss of motor coordination and mental deterioration.
NCL initially leads to vision impairment as a result of a rapidly progressive pigmentary retinopathy, optic atrophy later on, and blindness by 2-3 years of age for the early-onset form of the disease.