Amaurosis

Classification according to ICD-10
H54	Visual impairment including blindness (binocular or monocular)
ICD-10 online (WHO version 2019)

Amaurosis ( Greek ἀμαυρός (amauros) "dark, blind"), also known as completely blind , loss of vision or, rarely, black star , is the medical term for the complete lack of light perception in one or both eyes when there is a loss of any optical stimulus processing. With regard to a visual acuity test , this corresponds to the value “0 - without light perception”. As an objective sign of amaurosis, complete pupillary rigidity ( amaurotic pupillary rigidity ) occurs, in which no direct light reaction can be triggered.

causes

A wide variety of congenital or acquired factors that are able to trigger a complete interruption of the transmission of light stimuli to the brain can be the cause of an amaurosis. These include, for example, retinal detachments , degenerative diseases of the retina or choroid, compression or severing of the optic nerve , poisoning , tumors or vascular events. Hysterical amauroses are rare and usually occur on both sides. A genetic cause can be a mutation in the NMNAT1 gene , which has not previously been associated with human diseases.

Amaurosis and blindness

The concept of blindness is to be distinguished from amaurosis . According to the general legal situation and according to the definition of the World Health Organization ( WHO ), the property “blind” also applies to people with a very small amount of vision , which is not the case with amaurosis. In this respect, an amaurotic eye is also always blind, but a blind eye does not necessarily have to be amaurotic. In connection with social and welfare law aspects, blindness usually describes the condition of a “person”, not that of an eye as an “organ”. Accordingly, a person with a one-sided amaurosis and intact vision in the other eye is not considered blind in the legal sense.

Amaurosis fugax

Classification according to ICD-10
G45.3	Amaurosis fugax
ICD-10 online (WHO version 2019)

The Amaurosis fugax ( lat .: fugax = "volatile") is an acute, reversible and usually unilateral extending arterial vascular occlusion of the retinal supplying central retinal artery , which has a short-term, full darkening of the affected eye into. It is often considered the first sign of a cerebral circulatory disorder and can also occur in connection with a carotid stenosis .

Leber Congenital Amaurosis

The Leber Congenital Amaurosis (also: Congenital tapeto-retinal amaurosis , LCA ) is a congenital and usually autosomal - recessive inherited disorder of the pigment epithelium of the retina from degenerative manifestations of the choroid . It was first described by the German ophthalmologist and scientist Theodor Leber in 1869. Those affected are born blind or visually impaired. The probability of diagnosing LCA in children of the same parents is 25%. More than 10% of all congenital cases of blindness can be traced back to Leber's amaurosis.

Sleep disorders in the completely blind

Completely blind people often experience circadian sleep-wake rhythm disturbances of the free-running rhythm type and other sleep-wake rhythm disturbances, since the light-dark cycle timer required to synchronize the circadian rhythm , popularly known as the "internal clock", fails.

Web links

Wiktionary: Amaurosis - explanations of meanings, word origins, synonyms, translations

Professional Association of Ophthalmologists in Germany - BVA: Guideline No. 7 - Care for the visually impaired and the blind (PDF; 76 kB)

Individual evidence

^ Pschyrembel clinical dictionary . With clinical syndromes and nouns anatomica. = Clinical Dictionary. Edited by the publisher's dictionary editor under the direction of Christoph Zink. 256th, revised edition. de Gruyter, Berlin et al. 1990, ISBN 3-11-010881-X .
^ Rudolf Sachsenweger : Neuroophthalmology. 3rd, revised edition. Thieme, Stuttgart et al. 1982, ISBN 3-13-531003-5 , p. 167.
↑ Robert K. Koenekoop, Hui Wang, Jacek Majewski, Xia Wang, Irma Lopez, Huanan Ren, Yiyun Chen, Yumei Li, Gerald A. Fishman, Mohammed Genead, Jeremy Schwartzentruber, Naimesh Solanki, Elias I. Traboulsi, Jingliang Cheng, Clare V. Logan, Martin McKibbin, Bruce E Hayward, David A. Parry, Colin A. Johnson, Mohammed Nageeb, James A. Poulter, Moin D. Mohamed, Hussain Jafri, Yasmin Rashid, Graham R. Taylor, Vafa Keser, Graeme Mardon , Huidan Xu, Chris F. Inglehearn, Qing Fu, Carmel Toomes, Rui Chen: Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. In: Nature Genetics. Vol. 44, 2012, pp. 1035-1039, doi : 10.1038 / ng.2356 .
↑ New cause of congenital blindness discovered . Deutsches Ärzteblatt, August 2, 2012.
↑ Theodor Axenfeld (founder), Hans Pau (ed.): Textbook and atlas of ophthalmology. 12th, completely revised edition. With the collaboration of Rudolf Sachsenweger and others Gustav Fischer, Stuttgart and others 1980, ISBN 3-437-00255-4 .
^ Albert J. Augustin: Ophthalmology. 3rd, completely revised and expanded edition. Springer, Berlin et al. 2007, ISBN 978-3-540-30454-8 , p. 147.
^ Information from the Bremen Vascular Center .
↑ Theodor Axenfeld (founder), Hans Pau (ed.): Textbook and atlas of ophthalmology. 12th, completely revised edition. With the collaboration of Rudolf Sachsenweger and others Gustav Fischer, Stuttgart and others 1980, ISBN 3-437-00255-4 , p. 550.
↑ Wolfgang Hammerstein, Walter Lisch (Ed.): Ophthalmologische Genetik. Diagnostics, prevention, rehabilitation (= library of the ophthalmologist. Vol. 105). Enke, Stuttgart et al. 1985, ISBN 3-432-94941-3 , p. 8.
↑ S3 guideline for non-restful sleep / sleep disorders of the German Society for Sleep Research and Sleep Medicine (DGSM). In: AWMF online (as of 2009)

[1] Pschyrembel clinical dictionary . With clinical syndromes and nouns anatomica. = Clinical Dictionary. Edited by the publisher's dictionary editor under the direction of Christoph Zink. 256th, revised edition. de Gruyter, Berlin et al. 1990, ISBN 3-11-010881-X .

[2] Rudolf Sachsenweger : Neuroophthalmology. 3rd, revised edition. Thieme, Stuttgart et al. 1982, ISBN 3-13-531003-5 , p. 167.

[3] Robert K. Koenekoop, Hui Wang, Jacek Majewski, Xia Wang, Irma Lopez, Huanan Ren, Yiyun Chen, Yumei Li, Gerald A. Fishman, Mohammed Genead, Jeremy Schwartzentruber, Naimesh Solanki, Elias I. Traboulsi, Jingliang Cheng, Clare V. Logan, Martin McKibbin, Bruce E Hayward, David A. Parry, Colin A. Johnson, Mohammed Nageeb, James A. Poulter, Moin D. Mohamed, Hussain Jafri, Yasmin Rashid, Graham R. Taylor, Vafa Keser, Graeme Mardon , Huidan Xu, Chris F. Inglehearn, Qing Fu, Carmel Toomes, Rui Chen: Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. In: Nature Genetics. Vol. 44, 2012, pp. 1035-1039, doi : 10.1038 / ng.2356 .

[4] New cause of congenital blindness discovered . Deutsches Ärzteblatt, August 2, 2012.

[5] Theodor Axenfeld (founder), Hans Pau (ed.): Textbook and atlas of ophthalmology. 12th, completely revised edition. With the collaboration of Rudolf Sachsenweger and others Gustav Fischer, Stuttgart and others 1980, ISBN 3-437-00255-4 .

[6] Albert J. Augustin: Ophthalmology. 3rd, completely revised and expanded edition. Springer, Berlin et al. 2007, ISBN 978-3-540-30454-8 , p. 147.

[7] Information from the Bremen Vascular Center .

[8] Theodor Axenfeld (founder), Hans Pau (ed.): Textbook and atlas of ophthalmology. 12th, completely revised edition. With the collaboration of Rudolf Sachsenweger and others Gustav Fischer, Stuttgart and others 1980, ISBN 3-437-00255-4 , p. 550.

[9] Wolfgang Hammerstein, Walter Lisch (Ed.): Ophthalmologische Genetik. Diagnostics, prevention, rehabilitation (= library of the ophthalmologist. Vol. 105). Enke, Stuttgart et al. 1985, ISBN 3-432-94941-3 , p. 8.

[S3Schlaf-10] S3 guideline for non-restful sleep / sleep disorders of the German Society for Sleep Research and Sleep Medicine (DGSM). In: AWMF online (as of 2009)