Acute Bilateral Leber Hereditary Optic Neuropathy. 2015

Vikas Khetan, and Mario Zanolli, and Alex V Levin

UI MeSH Term Description Entries
D008297 Male Males
D009245 NADH Dehydrogenase A flavoprotein and iron sulfur-containing oxidoreductase that catalyzes the oxidation of NADH to NAD. In eukaryotes the enzyme can be found as a component of mitochondrial electron transport complex I. Under experimental conditions the enzyme can use CYTOCHROME C GROUP as the reducing cofactor. The enzyme was formerly listed as EC 1.6.2.1. NADH Cytochrome c Reductase,Diaphorase (NADH Dehydrogenase),NADH (Acceptor) Oxidoreductase,NADH Cytochrome c Oxidoreductase,Dehydrogenase, NADH
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
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D004272 DNA, Mitochondrial Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins. Mitochondrial DNA,mtDNA
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000208 Acute Disease Disease having a short and relatively severe course. Acute Diseases,Disease, Acute,Diseases, Acute
D014786 Vision Disorders Visual impairments limiting one or more of the basic functions of the eye: visual acuity, dark adaptation, color vision, or peripheral vision. These may result from EYE DISEASES; OPTIC NERVE DISEASES; VISUAL PATHWAY diseases; OCCIPITAL LOBE diseases; OCULAR MOTILITY DISORDERS; and other conditions (From Newell, Ophthalmology: Principles and Concepts, 7th ed, p132). Hemeralopia,Macropsia,Micropsia,Day Blindness,Metamorphopsia,Vision Disability,Visual Disorders,Visual Impairment,Blindness, Day,Disabilities, Vision,Disability, Vision,Disorder, Visual,Disorders, Visual,Hemeralopias,Impairment, Visual,Impairments, Visual,Macropsias,Metamorphopsias,Micropsias,Vision Disabilities,Vision Disorder,Visual Disorder,Visual Impairments
D014792 Visual Acuity Clarity or sharpness of OCULAR VISION or the ability of the eye to see fine details. Visual acuity depends on the functions of RETINA, neuronal transmission, and the interpretative ability of the brain. Normal visual acuity is expressed as 20/20 indicating that one can see at 20 feet what should normally be seen at that distance. Visual acuity can also be influenced by brightness, color, and contrast. Acuities, Visual,Acuity, Visual,Visual Acuities
D017354 Point Mutation A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. Mutation, Point,Mutations, Point,Point Mutations

Related Publications

Vikas Khetan, and Mario Zanolli, and Alex V Levin
October 1993, American journal of human genetics,
Vikas Khetan, and Mario Zanolli, and Alex V Levin
July 2008, Expert opinion on medical diagnostics,
Vikas Khetan, and Mario Zanolli, and Alex V Levin
March 2002, Journal of medical genetics,
Vikas Khetan, and Mario Zanolli, and Alex V Levin
February 1996, Ophthalmology,
Vikas Khetan, and Mario Zanolli, and Alex V Levin
January 2018, Vestnik oftalmologii,
Vikas Khetan, and Mario Zanolli, and Alex V Levin
May 2016, Neuro-ophthalmology (Aeolus Press),
Vikas Khetan, and Mario Zanolli, and Alex V Levin
March 2012, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society,
Vikas Khetan, and Mario Zanolli, and Alex V Levin
January 2019, Revue neurologique,
Vikas Khetan, and Mario Zanolli, and Alex V Levin
January 2015, Clinical ophthalmology (Auckland, N.Z.),
Vikas Khetan, and Mario Zanolli, and Alex V Levin
August 2016, Neuro-ophthalmology (Aeolus Press),
Copied contents to your clipboard!