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Nystagmus 5, congenital, X-linked(NYS5)

MedGen UID:
375583
Concept ID:
C1845116
Disease or Syndrome
Synonym: NYS5
 
Monarch Initiative: MONDO:0010369
OMIM®: 300589

Definition

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
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Hyperopic astigmatism
MedGen UID:
376146
Concept ID:
C1847524
Disease or Syndrome
A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error.
Abnormal stereopsis
MedGen UID:
868908
Concept ID:
C4023319
Anatomical Abnormality
Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head.

Recent clinical studies

Etiology

Tu Z, Degg C, Bach M, McLean R, Sheth V, Thomas MG, Yang S, Gottlob I, Proudlock FA
Invest Ophthalmol Vis Sci 2024 Apr 1;65(4):11. doi: 10.1167/iovs.65.4.11. PMID: 38573619Free PMC Article
Ma X, Ning K, Jabbehdari S, Prosseda PP, Hu Y, Shue A, Lambert SR, Sun Y
Eur J Ophthalmol 2020 Sep;30(5):966-973. Epub 2020 Apr 27 doi: 10.1177/1120672120920544. PMID: 32340490Free PMC Article
Kurent A, Brecelj J, Stirn-Kranjc B
Eur J Ophthalmol 2020 Jan;30(1):147-154. Epub 2018 Dec 12 doi: 10.1177/1120672118818322. PMID: 30541351
Kimchi A, Meiner V, Silverstein S, Macarov M, Mor-Shaked H, Blumenfeld A, Audo I, Zeitz C, Mechoulam H, Banin E, Sharon D, Yahalom C
Ophthalmic Genet 2019 Oct;40(5):443-448. Epub 2019 Oct 25 doi: 10.1080/13816810.2019.1681008. PMID: 31651202
Papageorgiou E, McLean RJ, Gottlob I
Pediatr Neonatol 2014 Oct;55(5):341-51. Epub 2014 Jul 31 doi: 10.1016/j.pedneo.2014.02.007. PMID: 25086850

Diagnosis

Tu Z, Degg C, Bach M, McLean R, Sheth V, Thomas MG, Yang S, Gottlob I, Proudlock FA
Invest Ophthalmol Vis Sci 2024 Apr 1;65(4):11. doi: 10.1167/iovs.65.4.11. PMID: 38573619Free PMC Article
Xu J, Chen Y, Chen H, Wang J, Yan T, Yu X, Ye L, Xu M, Xu S, Yu H, Deng R, Zheng Y, Yang Y, Chen Q, Yu X, Liu Y, Liang Y, Gu F
Exp Eye Res 2023 Aug;233:109567. Epub 2023 Jul 7 doi: 10.1016/j.exer.2023.109567. PMID: 37423457
Ma X, Ning K, Jabbehdari S, Prosseda PP, Hu Y, Shue A, Lambert SR, Sun Y
Eur J Ophthalmol 2020 Sep;30(5):966-973. Epub 2020 Apr 27 doi: 10.1177/1120672120920544. PMID: 32340490Free PMC Article
Kurent A, Brecelj J, Stirn-Kranjc B
Eur J Ophthalmol 2020 Jan;30(1):147-154. Epub 2018 Dec 12 doi: 10.1177/1120672118818322. PMID: 30541351
Papageorgiou E, McLean RJ, Gottlob I
Pediatr Neonatol 2014 Oct;55(5):341-51. Epub 2014 Jul 31 doi: 10.1016/j.pedneo.2014.02.007. PMID: 25086850

Prognosis

Zi F, Li Z, Cheng W, Huang X, Sheng X, Rong W
BMC Med Genomics 2023 Sep 25;16(1):223. doi: 10.1186/s12920-023-01665-x. PMID: 37749571Free PMC Article
Kimchi A, Meiner V, Silverstein S, Macarov M, Mor-Shaked H, Blumenfeld A, Audo I, Zeitz C, Mechoulam H, Banin E, Sharon D, Yahalom C
Ophthalmic Genet 2019 Oct;40(5):443-448. Epub 2019 Oct 25 doi: 10.1080/13816810.2019.1681008. PMID: 31651202
Hinds AM, Fahim A, Moore AT, Wong SC, Michaelides M
Br J Ophthalmol 2018 May;102(5):622-624. Epub 2017 Aug 28 doi: 10.1136/bjophthalmol-2017-310593. PMID: 28848025
Han J, Lee T, Lee JB, Han SH
Graefes Arch Clin Exp Ophthalmol 2017 Aug;255(8):1661-1668. Epub 2017 Jun 14 doi: 10.1007/s00417-017-3713-y. PMID: 28616716
Dryja TP, Adams SM, Grimsby JL, McGee TL, Hong DH, Li T, Andréasson S, Berson EL
Am J Hum Genet 2001 May;68(5):1295-8. Epub 2001 Mar 29 doi: 10.1086/320113. PMID: 11283794Free PMC Article

Clinical prediction guides

Wyględowska-Promieńska D, Świerczyńska M, Śpiewak D, Pojda-Wilczek D, Tronina A, Dorecka M, Smędowski A
Int J Mol Sci 2024 Mar 2;25(5) doi: 10.3390/ijms25052928. PMID: 38474172Free PMC Article
Zi F, Li Z, Cheng W, Huang X, Sheng X, Rong W
BMC Med Genomics 2023 Sep 25;16(1):223. doi: 10.1186/s12920-023-01665-x. PMID: 37749571Free PMC Article
Mcilreavy L, Freeman TCA, Erichsen JT
Invest Ophthalmol Vis Sci 2020 Jun 3;61(6):15. doi: 10.1167/iovs.61.6.15. PMID: 32526031Free PMC Article
Miraldi Utz V, Pfeifer W, Longmuir SQ, Olson RJ, Wang K, Drack AV
JAMA Ophthalmol 2018 Apr 1;136(4):389-398. doi: 10.1001/jamaophthalmol.2018.0185. PMID: 29522070Free PMC Article
Dryja TP, Adams SM, Grimsby JL, McGee TL, Hong DH, Li T, Andréasson S, Berson EL
Am J Hum Genet 2001 May;68(5):1295-8. Epub 2001 Mar 29 doi: 10.1086/320113. PMID: 11283794Free PMC Article

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