Literature DB >> 1614174

[Congenital oculomotor apraxia. Presentation--developmental problems--differential diagnosis].

M Steinlin1, L Thun-Hohenstein, E Boltshauser.   

Abstract

Congenital oculomotor apraxia (COMA) was initially defined by Cogan in 1952. In this condition voluntary horizontal saccades cannot be generated, while slow horizontal pursuit movements and vertical eye movements are intact. Affected infants usually present with delayed visual and/or psychomotor development or may even appear to be blind. In the second half of the first year "compensatory" head thrust movements become apparent. While the oculomotor abnormalities tend to improve with increasing age most affected children have delayed motor and speech development. The cognitive development is commonly impaired and many children require a special scholastic education. In our personal series of 9 children we have found variable and nonspecific neuroradiological findings, including cerebellar hypoplasia, hypoplasia of corpus callosum and grey matter heterotopias. COMA has to be differentiated from acquired forms of ocular apraxia as seen in Morbus Gaucher type 3, ataxia teleangiectasia and Morbus Leigh.

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Year:  1992        PMID: 1614174     DOI: 10.1055/s-2008-1045846

Source DB:  PubMed          Journal:  Klin Monbl Augenheilkd        ISSN: 0023-2165            Impact factor:   0.700


  2 in total

1.  Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study.

Authors:  Sarah Wente; Simone Schröder; Johannes Buckard; Hans-Martin Büttel; Florian von Deimling; Wilfried Diener; Martin Häussler; Susanne Hübschle; Silvia Kinder; Gerhard Kurlemann; Christoph Kretzschmar; Michael Lingen; Wiebke Maroske; Dirk Mundt; Iciar Sánchez-Albisua; Jürgen Seeger; Sandra P Toelle; Eugen Boltshauser; Knut Brockmann
Journal:  Orphanet J Rare Dis       Date:  2016-07-29       Impact factor: 4.123

2.  The effect of orbital implantation on peripheral blood melatonin and sex hormone levels in child patients with congenital eyeball dysplasia.

Authors:  Junze Ma; Tao Liu; Jianqiang Qu
Journal:  Exp Ther Med       Date:  2017-07-07       Impact factor: 2.447

  2 in total

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