Genetic counseling for congenital nystagmus

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Abstract
Two families with congenital nystagmus are presented. In the first one it was caused by an underlying autosomal dominant cone-rod dystrophy. The second family illustrates X-linked dominant idiopathic nystagmus with reduced penetrance. Genetic counseling in congenital nystagmus relies in the first place on the diagnosis of the type of nystagmus involved. In affected adults whose diagnosis was made in childhood, a renewed and complete ophthalmic examination is mandatory and an electroretinogram is indispensable. Such examination can possibly reveal a serious underlying ocular disease which was formerly overlooked. Even after a correct diagnosis, the gathering of reliable family data, the interpretation of the genealogic tree and the knowledge of the genetic literature can be necessary for the determination of the recurrence risk. Counseling must not only consist in the presentation of the mathematical risk but should also include a discussion of the degree of the visual handicap due to the disorder. If the resulting handicap is slight, some parents often are willing to take a risk even as high as 50%.

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