Home > Terms > English, UK (UE) > Neuronal ceroid lipofuscinosis

Neuronal ceroid lipofuscinosis

Rare, hereditary, degenerative disease in which the body does not store pigments called lipofuscins properly; the disease is characterised by vision loss, seizures and dementia. Types include Santavuori-Haltia (infantile), Jansky-Bielschowsky (late infantile), Spielmeyer-Vogt (juvenile) and Kufs' disease (adult). Some types may also be called Batten disease.

This is auto-generated content. You can help to improve it.
0
Improve it
  • Part of Speech: noun
  • Synonym(s):
  • Blossary:
  • Industry/Domain: Health care
  • Category: Optometry
  • Company:
  • Product:
  • Acronym-Abbreviation:
More
Collect to Blossary

Other Languages:

More

Member comments

You have to log in to post to discussions.

Related terms

neuronal ceroid lipofuscinosis
Health care; Optometry

Rare, hereditary, degenerative disease in which the body does not store pigments called lipofuscins properly; the disease is characterized by vision loss, seizures and dementia. ...

juvenile neuronal ceroid lipofuscinosis
Medical; Health care; Medicine

This type is caused by mutation in the CLN3 gene encoding a lysosomal integral membrane protein (Battenin).

infantile neuronal ceroid lipofuscinosis
Medical; Health care; Medicine

This type is caused by mutation in the gene (CLN1or PPT1) encoding palmitoyl-protein thioesterase (thiolester hydrolases), an enzyme involved in catabolism of lipid-modified ...

neuronal ceroid lipofuscinosis
Medical; Health care; Medicine

A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (ceroid; lipofuscin) in neurons. There are ...

neuronal ceroid-lipofuscinosis
Health care; Diseases

An inherited degenerative disease characterized by neuronal cytoplasmic inclusions which stain positively for ceroid and lipofuscin. Affected individuals develop retinal ...

late-infantile neuronal ceroid lipofuscinosis
Medical; Health care; Medicine

This type is caused by mutation in the CLN2 gene encoding tripeptidyl-peptidase I, a lysosomal serine protease.

ophthalmoscope
Eyewear; Optometry

An optical instrument used to examine the external and internal parts of the eye, particularly the media and the fundus.

pantoscopic angle
Eyewear; Optometry

1. Angle in the vertical plane between the optical axis of a spectacle lens and the visual axis of the eye in the primary position, usually taken to be the horizontal. 2. Angle ...

optical material
Eyewear; Optometry

Transparent material capable of being manufactured into optical components.

optical radiation hazard
Eyewear; Optometry

Possibility of damage to the retina by optical radiation.

optical centre
Eyewear; Optometry

For practical purposes, the intersection of the optical axis with the front surface a lens.

ophthalmoscope
Optometry; Optometry

An optical instrument used to examine the external and internal parts of the eye, particularly the media and the fundus.

Terms in the News

Featured Terms

Harry8L
  • 0

    Terms

  • 0

    Blossaries

  • 1

    Followers

Industry/Domain: Law Category: US law

Salinas v. Texas

On June 17, 2013 the U.S. Supreme Court ruled 5-4 that if you remain silent before the police read your Miranda rights, that silence can and will be ...

Contributor

Featured blossaries

Relevant Races in Forgotten Realms

Category: Entertainment   2 30 Terms

Top 10 Most Popular Social Networks

Category: Business   1 11 Terms

Browers Terms By Category

TERMS

SOCIAL

EXTRAS

SOLUTIONS