Biomaterial Database

Leber's hereditary optic atrophy. 1989

T A Berninger, and A C Bird, and G B Arden

University Eye Hospital Munich, West Germany.

Leber described a particular type of hereditary optic atrophy in 1871. The clinical features of all cases since reported are reviewed. There is characteristically acute visual loss, circumpapillary teleangiectatic micropathy, tortuosity of the retinal vessels and oedema in the retinal nerve fibres. 85% of those affected are male, but affected fathers do not transmit the condition to their children. The exact mode of inheritance is still obscure but it is suggested that inheritance may be mitochondrial; enlarged subsarcolemmal mitochondria in LOA patients have been described. Colour vision defects are observed not only in patients, but also in presumed carriers. Electrophysiological investigations demonstrate optic nerve damage, but are not indicative of any particular pathology. It has been reported that in many cases of LOA the severity of the disease is related to tobacco smoking. Increased cyanocobalamin blood levels in patients and increased cyanide blood levels support this hypothesis.

UI	MeSH Term	Description	Entries
D007564	Japan	A country in eastern Asia, island chain between the North Pacific Ocean and the Sea of Japan, east of the Korean Peninsula. The capital is Tokyo.	Bonin Islands
D008297	Male		Males
D009420	Nervous System	The entire nerve apparatus, composed of a central part, the brain and spinal cord, and a peripheral part, the cranial and spinal nerves, autonomic ganglia, and plexuses. (Stedman, 26th ed)	Nervous Systems,System, Nervous,Systems, Nervous
D009900	Optic Nerve	The 2nd cranial nerve which conveys visual information from the RETINA to the brain. The nerve carries the axons of the RETINAL GANGLION CELLS which sort at the OPTIC CHIASM and continue via the OPTIC TRACTS to the brain. The largest projection is to the lateral geniculate nuclei; other targets include the SUPERIOR COLLICULI and the SUPRACHIASMATIC NUCLEI. Though known as the second cranial nerve, it is considered part of the CENTRAL NERVOUS SYSTEM.	Cranial Nerve II,Second Cranial Nerve,Nervus Opticus,Cranial Nerve, Second,Cranial Nerves, Second,Nerve, Optic,Nerve, Second Cranial,Nerves, Optic,Nerves, Second Cranial,Optic Nerves,Second Cranial Nerves
D012160	Retina	The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent.	Ora Serrata
D004596	Electroretinography	Recording of electric potentials in the retina after stimulation by light.	Electroretinographies
D005074	Evoked Potentials, Visual	The electric response evoked in the cerebral cortex by visual stimulation or stimulation of the visual pathways.	Visual Evoked Response,Evoked Potential, Visual,Evoked Response, Visual,Evoked Responses, Visual,Potential, Visual Evoked,Potentials, Visual Evoked,Response, Visual Evoked,Responses, Visual Evoked,Visual Evoked Potential,Visual Evoked Potentials,Visual Evoked Responses
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
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man