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.


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 (164100), nystagmus 3 (608345), and nystagmus 4 (614826) 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, NYS5, and NYS6.

Autosomal dominant
Treatment Options: 

No treatment has been reported. 

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