Nystagmus 7, Congenital, Autosomal Dominant

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OMIM 57 614826 MedGen 42 C3553801

SNOMED-CT via HPO 69 263681008 UMLS 73 C3553801

OMIM : ⁵⁷ Classic congenital or infantile nystagmus presents as conjugate, horizontal oscillations of the eyes, in primary or eccentric gaze, often with a preferred head turn or tilt. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. Eye movement recordings reveal that infantile nystagmus is predominantly a horizontal jerk waveform, with a diagnostic accelerating velocity slow phase. However, pendular and triangular waveforms may also be present. The nystagmus may rarely be vertical. As these patients often have normal visual acuity, it is presumed that the nystagmus represents a primary defect in the parts of the brain responsible for ocular motor control; thus the disorder has sometimes been termed 'congenital motor nystagmus' (Tarpey et al., 2006; Shiels et al., 2007). For a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 (310700). (614826)

MalaCards based summary : Nystagmus 7, Congenital, Autosomal Dominant, is also known as nys7. An important gene associated with Nystagmus 7, Congenital, Autosomal Dominant is NYS7 (Nystagmus 7, Congenital). Affiliated tissues include brain and eye, and related phenotype is horizontal pendular nystagmus.

Clinical features from OMIM:

614826

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