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Nystagmus 7, congenital, autosomal dominant(NYS7)

MedGen UID:
766715
Concept ID:
C3553801
Disease or Syndrome
Synonym: NYS7
 
Monarch Initiative: MONDO:0013903
OMIM®: 614826

Definition

Autosomal dominant congenital nystagmus-7 (NYS7) is characterized by horizontal pendular nystagmus present from infancy. The cornea, iris, lens, and retina are normal (Xiao et al., 2012, Li et al., 2012). 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). [from OMIM]

Clinical features

From HPO
Horizontal pendular nystagmus
MedGen UID:
356175
Concept ID:
C1866180
Congenital Abnormality
Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity.

Professional guidelines

PubMed

Yi Z, Sun W, Xiao X, Li S, Jia X, Li X, Yu B, Wang P, Zhang Q
Exp Eye Res 2021 Jul;208:108637. Epub 2021 May 26 doi: 10.1016/j.exer.2021.108637. PMID: 34048777

Recent clinical studies

Etiology

Stunkel ML, Brodie SE, Cideciyan AV, Pfeifer WL, Kennedy EL, Stone EM, Jacobson SG, Drack AV
Am J Ophthalmol 2018 Jun;190:58-68. Epub 2018 Mar 17 doi: 10.1016/j.ajo.2018.03.021. PMID: 29559409
Abadi RV, Bjerre A
Br J Ophthalmol 2002 Oct;86(10):1152-60. doi: 10.1136/bjo.86.10.1152. PMID: 12234898Free PMC Article
Czeizel A, Skirpeczky K, Mester E, Sankaranarayanan K
Mutat Res 1992 Nov 16;270(2):103-14. doi: 10.1016/0027-5107(92)90121-h. PMID: 1383727

Diagnosis

Weston P, Taranath D, Liebelt J, Smith N
Doc Ophthalmol 2022 Oct;145(2):163-174. Epub 2022 Aug 10 doi: 10.1007/s10633-022-09892-w. PMID: 35947237
Stunkel ML, Brodie SE, Cideciyan AV, Pfeifer WL, Kennedy EL, Stone EM, Jacobson SG, Drack AV
Am J Ophthalmol 2018 Jun;190:58-68. Epub 2018 Mar 17 doi: 10.1016/j.ajo.2018.03.021. PMID: 29559409
Hoffmann S, Becker A, Hoerle S, Metz A, Oertel WH, Sommer N, Hemmer B
Am J Ophthalmol 2004 Sep;138(3):439-43. doi: 10.1016/j.ajo.2004.04.065. PMID: 15364228
Harris CM, Walker J, Shawkat F, Wilson J, Russell-Eggitt I
Neuropediatrics 1993 Jun;24(3):117-22. doi: 10.1055/s-2008-1071526. PMID: 8355816
Tsukahara S, Sasamoto M, Watanabe I, Phillips CI
Jpn J Ophthalmol 1985;29(3):315-21. PMID: 4079129

Prognosis

Sonoda S, Isashiki Y, Tabata Y, Kimura K, Kakiuchi T, Ohba N
Graefes Arch Clin Exp Ophthalmol 2000 Jul;238(7):552-8. doi: 10.1007/s004170000124. PMID: 10955655

Clinical prediction guides

Mariotti C, Bella DD, Di Donato S, Taroni F
Handb Clin Neurol 2012;103:575-9. doi: 10.1016/B978-0-444-51892-7.00039-5. PMID: 21827917
Dudding TE, Friend K, Schofield PW, Lee S, Wilkinson IA, Richards RI
Neurology 2004 Dec 28;63(12):2288-92. doi: 10.1212/01.wnl.0000147299.80872.d1. PMID: 15623688
Hoffmann S, Becker A, Hoerle S, Metz A, Oertel WH, Sommer N, Hemmer B
Am J Ophthalmol 2004 Sep;138(3):439-43. doi: 10.1016/j.ajo.2004.04.065. PMID: 15364228
Abadi RV, Bjerre A
Br J Ophthalmol 2002 Oct;86(10):1152-60. doi: 10.1136/bjo.86.10.1152. PMID: 12234898Free PMC Article
Kerrison JB, Vagefi MR, Barmada MM, Maumenee IH
Am J Hum Genet 1999 Feb;64(2):600-7. doi: 10.1086/302244. PMID: 9973299Free PMC Article

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