Ocular manifestations in familial lecithin: cholesterol acyltransferase deficiency. 1974

I Hörven

UI MeSH Term Description Entries
D008052 Lipid Metabolism, Inborn Errors Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable. Lipid Metabolism, Inborn Error
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
D010211 Papilledema Swelling of the OPTIC DISK, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause OPTIC ATROPHY and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175) Choked Disk,Edema of the Optic Disc,Edema of the Optic Disk,Optic Disc Edema,Optic Disk Edema,Optic Papilla Edema,Papillitis, Optic,Decreased Intraocular Pressure-Associated Papilledema,Increased Intracranial Pressure-Associated Papilledema,Optic Nerve Papillitis,Papilledema Associated with Decreased Intraocular Pressure,Papilledema Associated with Increased Intracranial Pressure,Papillitis,Retinal Edema,Choked Disks,Decreased Intraocular Pressure Associated Papilledema,Disk, Choked,Edema, Optic Disc,Edema, Optic Disk,Edema, Optic Papilla,Edema, Retinal,Edemas, Optic Disc,Edemas, Optic Disk,Edemas, Retinal,Increased Intracranial Pressure Associated Papilledema,Optic Papillitis,Papillitis, Optic Nerve,Retinal Edemas
D010713 Phosphatidylcholines Derivatives of PHOSPHATIDIC ACIDS in which the phosphoric acid is bound in ester linkage to a CHOLINE moiety. Choline Phosphoglycerides,Choline Glycerophospholipids,Phosphatidyl Choline,Phosphatidyl Cholines,Phosphatidylcholine,Choline, Phosphatidyl,Cholines, Phosphatidyl,Glycerophospholipids, Choline,Phosphoglycerides, Choline
D002784 Cholesterol The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils. Epicholesterol
D003318 Corneal Opacity Disorder occurring in the central or peripheral area of the cornea. The usual degree of transparency becomes relatively opaque. Leukoma,Corneal Opacities,Leukomas,Opacities, Corneal,Opacity, Corneal
D005128 Eye Diseases Diseases affecting the eye. Eye Disorders,Eye Disease,Eye Disorder
D005260 Female Females
D005654 Fundus Oculi The concave interior of the eye, consisting of the retina, the choroid, the sclera, the optic disk, and blood vessels, seen by means of the ophthalmoscope. (Cline et al., Dictionary of Visual Science, 4th ed) Fundus of the Eye,Ocular Fundus,Fundus, Ocular

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