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Nystagmus 6, congenital, X-linked(NYS6)

MedGen UID:
463102
Concept ID:
C3151752
Disease or Syndrome
Synonym: NYS6
 
Gene (location): GPR143 (Xp22.2)
 
Monarch Initiative: MONDO:0010435
OMIM®: 300814

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
Amblyopia
MedGen UID:
8009
Concept ID:
C0002418
Disease or Syndrome
Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.
Astigmatism
MedGen UID:
2473
Concept ID:
C0004106
Disease or Syndrome
Astigmatism (from the Greek 'a' meaning absence and 'stigma' meaning point) is a condition in which the parallel rays of light entering the eye through the refractive media are not focused on a single point. Both corneal and noncorneal factors contribute to refractive astigmatism. Corneal astigmatism is mainly the result of an aspheric anterior surface of the cornea, which can be measured readily by means of a keratometer; in a small fraction of cases (approximately 1 in 10) the effect is neutralized by the back surface. The curvature of the back surface of the cornea is not considered in most studies, because it is more difficult to measure; moreover, in the case of severe corneal astigmatism, there is evidence that both surfaces have the same configuration. Noncorneal factors are errors in the curvature of the 2 surfaces of the crystalline lens, irregularity in the refractive index of the lens, and an eccentric lens position. Since the cornea is the dominant component of the eye's refracting system, a highly astigmatic cornea is likely to result in a similarly astigmatic ocular refraction (summary by Clementi et al., 1998).
Hypopigmentation of the fundus
MedGen UID:
101805
Concept ID:
C0151891
Disease or Syndrome
Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).
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.
Retinal pigment epithelial mottling
MedGen UID:
347513
Concept ID:
C1857644
Finding
Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.

Professional guidelines

PubMed

Choi JH, Jung JH, Oh EH, Shin JH, Kim HS, Seo JH, Choi SY, Kim MJ, Choi HY, Lee C, Choi KD
Invest Ophthalmol Vis Sci 2018 Jun 1;59(7):3181-3188. doi: 10.1167/iovs.18-24207. PMID: 30025138

Recent clinical studies

Etiology

Choi JH, Jung JH, Oh EH, Shin JH, Kim HS, Seo JH, Choi SY, Kim MJ, Choi HY, Lee C, Choi KD
Invest Ophthalmol Vis Sci 2018 Jun 1;59(7):3181-3188. doi: 10.1167/iovs.18-24207. PMID: 30025138
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
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
Zhao H, Huang XF, Zheng ZL, Deng WL, Lei XL, Xing DJ, Ye L, Xu SZ, Chen J, Zhang F, Yu XP, Jin ZB
BMJ Open 2016 Apr 1;6(4):e010649. doi: 10.1136/bmjopen-2015-010649. PMID: 27036142Free PMC Article
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

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
Choi JH, Jung JH, Oh EH, Shin JH, Kim HS, Seo JH, Choi SY, Kim MJ, Choi HY, Lee C, Choi KD
Invest Ophthalmol Vis Sci 2018 Jun 1;59(7):3181-3188. doi: 10.1167/iovs.18-24207. PMID: 30025138
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
Zhao H, Huang XF, Zheng ZL, Deng WL, Lei XL, Xing DJ, Ye L, Xu SZ, Chen J, Zhang F, Yu XP, Jin ZB
BMJ Open 2016 Apr 1;6(4):e010649. doi: 10.1136/bmjopen-2015-010649. PMID: 27036142Free PMC Article
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
Lee J, Jeong H, Won D, Shin S, Lee ST, Choi JR, Byeon SH, Kuht HJ, Thomas MG, Han J
Transl Vis Sci Technol 2022 Jun 1;11(6):25. doi: 10.1167/tvst.11.6.25. PMID: 35762937Free 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
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
Shiels A, Bennett TM, Prince JB, Tychsen L
Mol Vis 2007 Nov 29;13:2233-41. PMID: 18087240

Clinical prediction guides

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
Lee J, Jeong H, Won D, Shin S, Lee ST, Choi JR, Byeon SH, Kuht HJ, Thomas MG, Han J
Transl Vis Sci Technol 2022 Jun 1;11(6):25. doi: 10.1167/tvst.11.6.25. PMID: 35762937Free PMC Article
Choi JH, Jung JH, Oh EH, Shin JH, Kim HS, Seo JH, Choi SY, Kim MJ, Choi HY, Lee C, Choi KD
Invest Ophthalmol Vis Sci 2018 Jun 1;59(7):3181-3188. doi: 10.1167/iovs.18-24207. PMID: 30025138
Shiels A, Bennett TM, Prince JB, Tychsen L
Mol Vis 2007 Nov 29;13:2233-41. PMID: 18087240
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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