Nystagmus 5, Congenital, X-linked

Clinical Characteristics
Ocular Features: 

In the single 4 generation French family reported nystagmus was the only ocular finding.  It is present at birth or within the first year of life.  Visual acuity has not been reported.

Systemic Features: 

None reported.

Genetics

The pattern of inheritance is uncertain.  Both sexes may be affected but no male-to-male transmission was documented in the single family reported.  Apparent incomplete penetrance makes analysis difficult since several unaffected females transmitted the phenotype to male offspring.

No mutation has been identified but a possible locus within Xp11.4-p11.3 may contain the mutant gene.

Autosomal dominant transmission patterns have been reported in other families: NYS2, NYS3, NYS4, and NYS7.

This database contains several additional forms of congenital nystagmus inherited in X-linked recessive patterns: NYS1, and NYS6.

Treatment
Treatment Options: 

No treatment has been reported.

References
Article Title: 

References

Cabot A, Rozet JM, Gerber S, Perrault I, Ducroq D, Smahi A, Souied E, Munnich A, Kaplan J. A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3. Am J Hum Genet. 1999 Apr;64(4):1141-6.

PubMedID: 10090899