Nystagmus 3, Congenital, AD

Clinical Characteristics
Ocular Features: 

The nystagmus is horizontal in type and accentuated by fixation and decreased by convergence.  It also increases during smooth pursuit and by lateral gaze.  There may be components of jerk, circular, and pendular nystagmus.  The nystagmus may be present at birth.

Systemic Features: 

No systemic disease is present.   


No specific mutation has been found but 3 individuals in one family shared a haplotype suggesting a locus at 7p11.2.  The pedigree pattern suggests autosomal dominant inheritance.  A four generation family with male to male transmission and a balanced 7;15 translocation has been reported with a similar phenotype.

Other forms of congenital nystagmus transmitted in a similar autosomal pattern are: NYS2, NYS4, and NYS7.

X-linked recessive transmission patterns have also been identified for congenital nystagmus: NYS1, NYS5, and NYS6.


Treatment Options: 

There is no effective cure for congenital nystagmus but some patients can benefit from extraocular muscle surgery, correction of refractive errors, and low vision aids.

Article Title: 


Klein C, Vieregge P, Heide W, Kemper B, Hagedorn-Greiwe M, Hagenah J, Vollmer C, Breakefield XO, Kompf D, Ozelius L. Exclusion of chromosome regions 6p12 and 15q11, but not chromosome region 7p11, in a German family with autosomal dominant congenital nystagmus. Genomics. 1998 Nov 15;54(1):176-7.

PubMedID: 9806847

Patton MA, Jeffery S, Lee N, Hogg C. Congenital nystagmus cosegregating with a balanced 7;15 translocation. J Med Genet. 1993 Jun;30(6):526-8.

PubMedID: 8236501