Jb. Kerrison et al., CLINICAL-FEATURES OF AUTOSOMAL-DOMINANT CONGENITAL NYSTAGMUS LINKED TO CHROMOSOME 6P12, American journal of ophthalmology, 125(1), 1998, pp. 64-70
PURPOSE: To describe the clinical features of a large pedigree with au
tosomal dominant congenital nystagmus linked to chromosome 6p12. METHO
DS: In a prospective evaluation of 54 living family members in a singl
e pedigree, 21 persons were affected with autosomal dominant congenita
l nystagmus, and clinical examinations were performed on 14. Selected
persons underwent further studies, including electroretinography, scan
ning laser ophthalmoscopy, nerve fiber layer studies, visual evoked po
tential studies, and eye movement recordings. RESULTS: Among seven aff
ected 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 Snell
en visual acuity ranged from 20/30 to 20/100, with a mode of 20/50. St
rabismus was present in 14 examined patients (36%). Eye movement recor
dings, performed on five persons, included asymmetric pendular (three)
, asymmetric pendular combined with dual waveform jerk (one), and unid
irectional jerk nystagmus (one).CONCLUSIONS: Autosomal dominant congen
ital nystagmus represents a disorder with variable expressivity. While
onset is typically during infancy, it can be noted at birth. Intrafam
ilial variation in visual acuity, ocular alignment, and nystagmus wave
form suggests a role for modifying influences on expression of disease
.