Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12

John B. Kerrison, Robert K. Koenekoop, Véronique J. Arnould, David Zee, Irene H Maumenee

Research output: Contribution to journalArticle

Abstract

PURPOSE: To describe the clinical features of a large pedigree with autosomal dominant congenital nystagmus linked to chromosome 6p12. METHODS: In a prospective evaluation of 54 living family members in a single pedigree, 21 persons were affected with autosomal dominant congenital nystagmus, and clinical examinations were performed on 14. Selected persons underwent further studies, including electroretinography, scanning laser ophthalmoscopy, nerve fiber layer studies, visual evoked potential studies, and eye movement recordings. RESULTS: Among seven affected persons whose parents were able to report whether the nystagmus was present congenitally, onset at birth was noted in two persons and between 3 and 6 months in five persons. Best-corrected binocular Snellen visual acuity ranged from 20/30 to 20/100, with a mode of 20/50. Strabismus was present in 14 examined patients (36%). Eye movement recordings, performed on five persons, included asymmetric pendular (three), asymmetric pendular combined with dual waveform jerk (one), and unidirectional jerk nystagmus (one). CONCLUSIONS: Autosomal dominant congenital nystagmus represents a disorder with variable expressivity. While onset is typically during infancy, it can be noted at birth. Intrafamilial variation in visual acuity, ocular alignment, and nystagmus waveform suggests a role for modifying influences on expression of disease.

Original languageEnglish (US)
Pages (from-to)64-70
Number of pages7
JournalAmerican journal of ophthalmology
Volume125
Issue number1
DOIs
StatePublished - Jan 1998
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology

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