Biomaterial Database

Ceroid lipofuscinosis. 1975

B L Beckerman, and I Rapin

Seven of ten patients with ceroid lipofuscinosis, including infantile, late infantile, juvenile, and atypical variants, presented with visual acuity loss. In the infantile case visual acuity loss was early and severe. Two patients with atypical variants did not develop ocular abnormalities. Children presenting with macular degeneration may have more extensive retinal involvement on electrophysiologic testing; neurologic evaluation may rule out the prodromal stages of lipofuscinosis.

UI	MeSH Term	Description	Entries
D008062	Lipofuscin	A naturally occurring lipid pigment with histochemical characteristics similar to ceroid. It accumulates in various normal tissues and apparently increases in quantity with age.
D008268	Macular Degeneration	Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms.	Maculopathy,Maculopathy, Age-Related,Age-Related Macular Degeneration,Age-Related Maculopathies,Age-Related Maculopathy,Macular Degeneration, Age-Related,Macular Dystrophy,Maculopathies, Age-Related,Age Related Macular Degeneration,Age Related Maculopathies,Age Related Maculopathy,Age-Related Macular Degenerations,Degeneration, Macular,Dystrophy, Macular,Macular Degeneration, Age Related,Macular Degenerations,Macular Dystrophies,Maculopathies,Maculopathy, Age Related
D008661	Metabolism, Inborn Errors	Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.	Inborn Errors of Metabolism,Metabolism Errors, Inborn,Error, Inborn Metabolism,Errors Metabolism, Inborn,Errors Metabolisms, Inborn,Errors, Inborn Metabolism,Inborn Errors Metabolism,Inborn Errors Metabolisms,Inborn Metabolism Error,Inborn Metabolism Errors,Metabolism Error, Inborn,Metabolism Inborn Error,Metabolism Inborn Errors,Metabolisms, Inborn Errors
D009896	Optic Atrophy	Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.	Atrophy, Optic
D010860	Pigments, Biological	Any normal or abnormal coloring matter in PLANTS; ANIMALS or micro-organisms.	Biological Pigments
D002493	Central Nervous System Diseases	Diseases of any component of the brain (including the cerebral hemispheres, diencephalon, brain stem, and cerebellum) or the spinal cord.	CNS Disease,Central Nervous System Disease,Central Nervous System Disorder,CNS Diseases,Central Nervous System Disorders
D002566	Ceroid	A naturally occurring lipid pigment with histochemical characteristics similar to lipofuscin. It accumulates in various tissues in certain experimental and pathological conditions.
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D004596	Electroretinography	Recording of electric potentials in the retina after stimulation by light.	Electroretinographies