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The neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive disorders caused by lipofuscin accumulation within the lysosomes of cells leading to cellular dysfunction and cell death. The approximated incidence is 1 per 12,500 live births. The disorders are associated with variable, yet progressive, symptoms including progressive degeneration of the nervous system, cognitive and motor decline, seizures, visual loss, and early death.
Clinically, the childhood-onset disorders have been classified into infantile, late-infantile, and juvenile forms based primarily on the age of symptom onset, rate of disease progression, and pattern of symptoms. The infant and juvenile types are associated with ocular findings in general and pigmentary retinopathies specifically, while the adult forms of NCL are absent ocular manifestation. More recently, following identification of several genetic mutations resulting in this...
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Zayit-Soudry, S., Mimouni, M. (2014). Ceroid Lipofuscinosis. In: Schmidt-Erfurth, U., Kohnen, T. (eds) Encyclopedia of Ophthalmology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-35951-4_1014-1
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DOI: https://doi.org/10.1007/978-3-642-35951-4_1014-1
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Publisher Name: Springer, Berlin, Heidelberg
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