nystagmus congenital motor 2

Nystagmus 2, Congenital, AD

Clinical Characteristics
Ocular Features: 

Pendular and sometimes jerk nystagmus are often present at birth.  Other patients are diagnosed between 3 and 6 months.  Vision is usually stable in the range of 20/30 to 20/100 with most patients having 20/50.  Between 35% and 50% of individuals have strabismus as well.

Systemic Features: 

None have been reported.

Genetics

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.

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

Nystagmus cannot be cured.  However, there are several treatments that can help.  Glasses and contact lenses, and, occasionally, extraocular muscle surgery may be helpful.  The latter should be considered especially when patients adopt a consistent head position for best vision.  This avoids long-term secondary changes in neck muscles and many individuals experience an improvement of two or more lines in visual acuity.  Low vision aids should be offered.

References
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