A case of congenital anidiria

A case of congenital anidiria with congenital nystagmus was reported. In his family, similar symptoms of anidiria and nystagmus were observed on eight members over three generation. Hereditary anidiria was transferred in autosomal dominant pattern in this pedigree. Nystagmus of this case was not sup...

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Bibliographic Details
Published inEquilibrium Research Vol. 69; no. 2; pp. 76 - 79
Main Author Kosaki, Hiroko
Format Journal Article
LanguageEnglish
Published Japan Society for Equilibrium Research 2010
Subjects
albinism
anidiria
Congenital nystagmus
eye development
PAX6
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Summary:A case of congenital anidiria with congenital nystagmus was reported. In his family, similar symptoms of anidiria and nystagmus were observed on eight members over three generation. Hereditary anidiria was transferred in autosomal dominant pattern in this pedigree. Nystagmus of this case was not supressed with closed eye, and may be of mixed origin of peripheral anterior visual pathway and central nervous system, as in albinism. Recent articles demonstrated that PAX6 gene was responsible for hereditary anidiria and congenital nystagmus. PAX6 gene has a role in movement of neural cells during development, as responsible gene of albinism has.
ISSN:0385-5716
1882-577X
DOI:10.3757/jser.69.76