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  • The following terms were not found in MedGen: hermitian, matrixstest17, homothetic.

Nystagmus 2, congenital, autosomal dominant(NYS2)

MedGen UID:
331657
Concept ID:
C1834079
Disease or Syndrome
Synonyms: NYS2; Nystagmus congenital, motor 2
 
Monarch Initiative: MONDO:0008106
OMIM®: 164100

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
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.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Horizontal nystagmus
MedGen UID:
124399
Concept ID:
C0271385
Disease or Syndrome
Nystagmus consisting of horizontal to-and-fro eye movements.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Mildly reduced visual acuity
MedGen UID:
1671080
Concept ID:
C4732817
Finding
Mild reduction of the ability to see. On the 6m visual acuity scale, mild reduction is defined as less than 6/12 but at least 6/18. On the 20ft visual acuity scale, mild reduction is defined as less than 20/40 but at least 20/70. On the decimal visual acuity scale, mild reduction is defined as less than 0.5 but at least 0.3.

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
Chan WH, Biswas S, Ashworth JL, Lloyd IC
Eur J Pediatr 2012 Apr;171(4):625-30. Epub 2012 Mar 1 doi: 10.1007/s00431-012-1700-1. PMID: 22383071

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
Kunst H, Marres H, Huygen P, Van Camp G, Joosten F, Cremers C
Audiology 1999 May-Jun;38(3):165-73. doi: 10.3109/00206099909073018. PMID: 10437687
Lee NB, Kelly L, Sharland M
Eye (Lond) 1992;6 ( Pt 3):328-34. doi: 10.1038/eye.1992.66. PMID: 1446772
Shallo-Hoffmann J, Watermeier D, Petersen J, Mühlendyck H
Neurosurg Rev 1988;11(2):151-8. doi: 10.1007/BF01794681. PMID: 3244412

Diagnosis

Matsushita I, Morita H, Kondo H
Jpn J Ophthalmol 2020 Nov;64(6):635-641. Epub 2020 Aug 28 doi: 10.1007/s10384-020-00766-9. PMID: 32857266
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
Thomas S, Thomas MG, Andrews C, Chan WM, Proudlock FA, McLean RJ, Pradeep A, Engle EC, Gottlob I
Eur J Hum Genet 2014 Mar;22(3):344-9. Epub 2013 Aug 14 doi: 10.1038/ejhg.2013.162. PMID: 23942204Free PMC Article
Chan WH, Biswas S, Ashworth JL, Lloyd IC
Eur J Pediatr 2012 Apr;171(4):625-30. Epub 2012 Mar 1 doi: 10.1007/s00431-012-1700-1. PMID: 22383071
Whaley NR, Fujioka S, Wszolek ZK
Orphanet J Rare Dis 2011 May 28;6:33. doi: 10.1186/1750-1172-6-33. PMID: 21619691Free PMC Article

Prognosis

Alzahem T, Alsalamah AK, Mura M, Alsulaiman SM
Ophthalmic Genet 2020 Aug;41(4):377-380. Epub 2020 Jun 5 doi: 10.1080/13816810.2020.1776339. PMID: 32498638
Thomas S, Thomas MG, Andrews C, Chan WM, Proudlock FA, McLean RJ, Pradeep A, Engle EC, Gottlob I
Eur J Hum Genet 2014 Mar;22(3):344-9. Epub 2013 Aug 14 doi: 10.1038/ejhg.2013.162. PMID: 23942204Free PMC Article
Chan WH, Biswas S, Ashworth JL, Lloyd IC
Eur J Pediatr 2012 Apr;171(4):625-30. Epub 2012 Mar 1 doi: 10.1007/s00431-012-1700-1. PMID: 22383071
Whaley NR, Fujioka S, Wszolek ZK
Orphanet J Rare Dis 2011 May 28;6:33. doi: 10.1186/1750-1172-6-33. PMID: 21619691Free PMC Article
Kunst H, Marres H, Huygen P, Van Camp G, Joosten F, Cremers C
Audiology 1999 May-Jun;38(3):165-73. doi: 10.3109/00206099909073018. PMID: 10437687

Clinical prediction guides

Matsushita I, Morita H, Kondo H
Jpn J Ophthalmol 2020 Nov;64(6):635-641. Epub 2020 Aug 28 doi: 10.1007/s10384-020-00766-9. PMID: 32857266
Thomas S, Thomas MG, Andrews C, Chan WM, Proudlock FA, McLean RJ, Pradeep A, Engle EC, Gottlob I
Eur J Hum Genet 2014 Mar;22(3):344-9. Epub 2013 Aug 14 doi: 10.1038/ejhg.2013.162. PMID: 23942204Free PMC Article
Li L, Xiao X, Yi C, Jiao X, Guo X, Hejtmancik JF, Zhang Q
J Hum Genet 2012 Dec;57(12):756-9. Epub 2012 Aug 23 doi: 10.1038/jhg.2012.103. PMID: 22914672
Chan WH, Biswas S, Ashworth JL, Lloyd IC
Eur J Pediatr 2012 Apr;171(4):625-30. Epub 2012 Mar 1 doi: 10.1007/s00431-012-1700-1. PMID: 22383071
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

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