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Leukodystrophies are a group of, usually, inherited disorders, characterized by degeneration of the white matter in the brain. [ 1 ] The word leukodystrophy comes from the Greek roots leuko, "white", dys, "abnormal" and troph, "growth". The leukodystrophies are caused by imperfect growth or development of the glial cells which produce the ...
Krabbe disease (KD) (also known as globoid cell leukodystrophy[3] or galactosylceramide lipidosis) is a rare and often fatal lysosomal storage disease that results in progressive damage to the nervous system. KD involves dysfunctional metabolism of sphingolipids and is inherited in an autosomal recessive pattern.
Lipofuscin. Lipofuscin is the name given to fine yellow-brown pigment granules composed of lipid -containing residues of lysosomal digestion. [ 1 ][ 2 ] It is considered to be one of the aging or "wear-and-tear" pigments, found in the liver, kidney, heart muscle, retina, adrenals, nerve cells, and ganglion cells. [ 3 ]
The irises of human eyes exhibit a wide spectrum of colours. Eye color is a polygenic phenotypic trait determined by two factors: the pigmentation of the eye 's iris [ 1 ][ 2 ] and the frequency-dependence of the scattering of light by the turbid medium in the stroma of the iris. [ 3 ]: 9. In humans, the pigmentation of the iris varies from ...
The incidence of metachromatic leukodystrophy is estimated to occur in 1 in 40,000 to 1 in 160,000 individuals worldwide. [13] There is a much higher incidence in certain genetically isolated populations, such as 1 in 75 in Habbanites (a small group of Jews who immigrated to Israel from southern Arabia), 1 in 2,500 in the western portion of the ...
Historically from Stargardt's first description of his eponymous disease until recently, the diagnosis was based on looking at the phenotype using examination and investigation of the eye. Since the advent of genetic testing, the picture has become more complex. What was thought to be one disease is, in fact, probably at least three different ...
This condition is inherited in an autosomal recessive manner. Leukoencephalopathy with vanishing white matter (VWM disease) is an autosomal recessive neurological disease. The cause of the disease are mutations in any of the 5 genes encoding subunits of the translation initiation factor eIF2B: EIF2B1, EIF2B2, EIF2B3, EIF2B4, or EIF2B5.
Retinal hemorrhage (UK English: retinal haemorrhage) is a disorder of the eye in which bleeding occurs in the retina, the light sensitive tissue, located on the back wall of the eye. [ 1 ] There are photoreceptor cells in the retina called rods and cones, which transduce light energy into nerve signals that can be processed by the brain to form ...