Nystagmus 4, AD

Clinical Characteristics

Ocular Features:

Abnormal eye movements generally are present as early as 1 to 2 years of life and are stable but they are not congenital in origin. Eye movement anomalies are somewhat variable and unusual with gaze-paretic nystagmus and poor or absent smooth pursuit most common. The nystagmus may also be upbeat in direction. A poor vestibuloocular reflex might be part of this eye movement complex. Vision in many individuals is normal but mildly decreased in others. Strabismus (primarily esotropia and exophoria) is common.

Systemic Features:

Mild "balance problems" have been reported by some patients. One individual reported intermittent dizziness. No other cerebellar signs are present. Neuroimaging found no CNS abnormalities in one patient. Seizures and ataxia were separately reported in two persons.

Genetics

The single reported family shows a transmission pattern consistent with autosomal dominant inheritance. A locus cosegregating with the condition has been found at 13q31-q33 but no specific mutation has been identified.

Only one family has been reported and additional information is needed to document the uniqueness of this disorder.

Other autosomal dominant congenital nystagmus conditions in this database are: NYS2 [1], NYS3 [2], and NYS7 [3].

Three X-linked isolated congenital nystagmus conditions may also be found in this database: NYS1 [4], NYS5 [5], and NYS6 [6].

Treatment

Treatment Options:

No treatment has been reported. Low vision aids might be helpful for school-age children.

References

Article Title:

Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus [7]

Ragge NK, Hartley C, Dearlove AM, Walker J, Russell-Eggitt I, Harris CM. Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus. J Med Genet. 2003 Jan;40(1):37-41. PubMed PMID: 12525540.

PubMed ID:

12525540

Eye movements in a familial vestibulocerebellar disorder [8]

Harris CM, Walker J, Shawkat F, Wilson J, Russell-Eggitt I. Eye movements in a familial vestibulocerebellar disorder. Neuropediatrics. 1993 Jun;24(3):117-22.

PubMed ID:

8355816