Late infantile neuronal ceroid lipofuscinosis

Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.

Visual loss

Loss of visual acuity (implying that vision was better at a certain timepoint in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).

Total: 2

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PMID (PMCID)
16759889	MIXED_SAMPLE	Child
	Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis.
	Bonsignore M, Tessa A, Di Rosa G, Piemonte F, Dionisi-Vici C, Simonati A, Calamoneri F, Tortorella G, Santorelli FM. Eur J Paediatr Neurol. 2006;10(3):154-6.
	The clinical phenotype is that of a variant late-infantile neuronal ceroid lipofuscinosis and consisted of early-onset visual loss, psychomotor deterioration, and seizures.
12728477	MALE	Child
	A case of late infantile neuronal ceroid lipofuscinosis.
	Lee CW, Bang H, Oh YG, Yun HS, Kim JD, Coe CJ. Yonsei Med J. 2003;44(2):331-5.
	We experienced a case of late infantile neuronal ceroid lipofuscinosis in a 6-year-old boy who had progressive myoclonic seizures, ataxia, rapid psychomotor deterioration and visual loss.