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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 ...
Pelizaeus–Merzbacher disease is an X-linked neurological disorder that damages oligodendrocytes in the central nervous system. It is caused by mutations in proteolipid protein 1 (PLP1), a major myelin protein. It is characterized by a decrease in the amount of insulating myelin surrounding the nerves (hypomyelination) and belongs to a group ...
Megalencephalic leukoencephalopathy with subcortical cysts (MLC, or Van der Knaap disease) is a form of hereditary CNS demyelinating disease. It belongs to a group of disorders called leukodystrophies. It is characterized by early-onset enlargement of the head (macrocephaly) as well as delayed-onset neurological deterioration to include ...
Often with VWM, the lack of knowledge of the disease causes a misdiagnosis among physicians. As VWM is a member of the large group of leukodystrophy syndromes, it is often misdiagnosed as another type such as metachromatic leukodystrophy. More often than not, it is simply classified as a non-specific leukodystrophy. [4]
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 four pigments in a bird's cone cells (in this example, estrildid finches) extend the range of color vision into the ultraviolet. [1]Tetrachromacy (from Greek tetra, meaning "four" and chroma, meaning "color") is the condition of possessing four independent channels for conveying color information, or possessing four types of cone cell in the eye.
Xanthopsia is a color vision deficiency in which there is a dominantly yellow bias in vision due to a yellowing of the optical media of the eye. The most common causes are digoxin 's inhibitory action on the sodium pump, and the development of cataracts which can cause a yellow filtering effect. It has been suggested that Van Gogh contracted ...
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 ...