Familial cases have an autosomal dominant transmission pattern. No specific mutation has been found but strong linkage with a region at 6p12 has been reported.
Several additional autosomal dominant forms of congenital nystagmus have been linked to chromosomal regions 7p11 (NYS3, 608345), 13q (NYS4, 193003), 1q31.3-q32.1, and NYS7 (614826). Autosomal recessive inheritance has been proposed for several pedigrees but adequate documentation is lacking (see 257400).
This database also contains 3 types of congenital nystagmus inherited in X-linked recessive patterns: NYS1, NYS5, and NYS6.