Purpose: Congenital nystagmus (CN) is an eye-movement disorder that usually starts within the first months of life. Autosomal dominant, autosomal recessive, and X-chromosomal pedigree patterns are observed. Causative genes are yet unknown. Several loci were implicated to contain disease-relevant genes for autosomal dominant CN (AD CN). AD CN cosegregated with a balanced translocation of 7;15 in a family. In a large black pedigree linkage was demonstrated to 6p12.
Design: In this study, we describe a large German family with AD congenital nystagmus. Linkage of AD in this family was tested with previously implicated loci.
Methods: Affected family members and unaffected members underwent genetic analysis. Key family members underwent ophthalmologic testing and oculography.
Results: No linkage of AD CN to the implicated loci on 6p12, and 7p11, and 15q11 was found in this study.
Conclusion: In the presented pedigree genes on 15q11, and on the assumption of full penetrance, 6p12 and 7p11 are not involved in the development of AD congenital nystagmus.