Familial congenital periodic alternating nystagmus with presumably X-linked dominant inheritance

Abstract

Familial congenital periodic alternating nystagmus (PAN) with presumably X-linked dominant inheritance (XLPAN) was observed in the proband and her mother. Many relatives had nystagmus by history. A pedigree was constructed with the data provided by the mother. Permission could not be obtained to contact any other relatives, but incidental medical data were obtained from elsewhere. From the pedigree it appeared that an X-linked dominant pattern of inheritance was most probable. The proband experienced symptomatic relief of oscillopsia by baclofen therapy (final dose 90 mg/day) but there was no appreciable change in the nystagmus intensity (at 120 mg/day).

Key Words:

• Genetics
• periodic alternating nystagmus (PAN)
• torticollis
• pendular nystagmus
• baclofen