[Congenital stationary night blindness (CSNB)--a case report].
OBJECTIVE
To document occurrence of the congenital stationary night blindness type Schubert-Bornschein in some members of one family, to put together the family tree, and to evaluate the examination methods. Among others the electroretinogram (ERG) is substantial in the diagnosis of the disease and to distinguish different types of CSNB. In the affected family, only in men the disease is expressed, females are transmitters. This corresponds to the X-linked inheritance. Simultaneously with CSNB, in this family, high myopia occurs not only in men, but also in women.


CONCLUSIONS
CSNB is an inherited disease, mostly with X-linked inheritance. Affected are predominantly males, females are transmitters. This disease is not possible to treat. Despite this, to determine proper diagnosis is important and use of ERG is mandatory.
Ocni klinika FN, Hradec Králové. lilakovad@lfhk.cuni.cz
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D
Liláková
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Svĕrák
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D
Hejcmanová
D000293:Adolescent; D002648:Child; D006801:Humans; D008297:Male; D009755:Night Blindness / Q000151:congenital / Q000235:genetics*; D010375:Pedigree