Nystagmus 7, Congenital, AD

Clinical Characteristics

Ocular Features:

A pendular nystagmus is usually diagnosed in infancy. The eye is otherwise anatomically and functionally normal. No photophobia, hypopigmentation, night blindness have been noted in the two Chinese families reported. The ERG and foveal appearance are normal. Visual acuity has not been reported.

Systemic Features:

No systemic abnormalities have been found.

Genetics

The two reported multigenerational pedigrees show a pattern consistent with autosomal dominant inheritance. No causative mutation has been identified but mapping suggests a locus at 1q31-q32.2 that segregates with the condition.

Nystagmus 2 [1] (164100 [2]), nystagmus 3 [3] (608345 [4]), and nystagmus 4 [5] (614826 [6]) are other autosomal dominant forms of simple nystagmus but they are unique disorders as they map to other chromosomal locations.

Several forms of X-linked recessive inheritance are contained in this database: NYS1 [7], NYS5 [8], and NYS6 [9].

Treatment

Treatment Options:

No treatment has been reported.

References

Article Title:

Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3-q32.1 [10]

Li L, Xiao X, Yi C, Jiao X, Guo X, Hejtmancik JF, Zhang Q. Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3-q32.1. J Hum Genet. 2012 Aug 23. [Epub ahead of print] PubMed PMID: 22914672.

PubMed ID:

22914672

A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692 [11]

Xiao X, Li S, Guo X, Zhang Q. A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692. Hum Genet. 2012 May;131(5):697-702.

PubMed ID:

22065086