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ISSN: 1505-8409
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1/2012
vol. 15
 
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abstract:

Congenital malformations and genetically determined eye disorders – diagnostics and genetic counselling

Maciej R. Krawczyński

Online publish date: 2012/06/25
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The causes and symptoms as well as clinical and genetic diagnostics of the most frequent congenital malformations and genetically determined eye disorders are discussed. Especially retinal dystrophies, hereditary optic nerve neuropathies, microphthalmia, aniridia and anterior segment dysgenesis are depicted. The most important symptoms suggesting a serious, congenital eye disorder and problems of genetic counselling are also discussed.
keywords:

retinal dystrophies, optic nerve atrophies, eye malformations, genetics, genetic counselling

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