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Infantile nystagmus, X-linked(NYS1)

MedGen UID:
333352
Concept ID:
C1839580
Disease or Syndrome
Synonyms: NYS1; Nystagmus 1, congenital, X- linked; NYSTAGMUS 1, INFANTILE, X-LINKED; Nystagmus, congenital motor, 1; NYSTAGMUS, INFANTILE IDIOPATHIC; NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED
Modes of inheritance:
Heterogeneous
MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
Source: HPO
The production of the same or similar phenotypes (observed biochemical, physiological, and morphological characteristics of a person determined by his/her genotype) by different genetic mechanisms. There are two types: (1) allelic heterogeneity - when different alleles at a locus can produce variable expression of a condition; and (2) locus heterogeneity - the term used to describe disease in which mutations at different loci can produce the same disease phenotype.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
X-linked recessive inheritance (HPO, OMIM, Orphanet)
X-linked dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): FRMD7 (Xq26.2)
OMIM®: 310700

Disease characteristics

Excerpted from the GeneReview: FRMD7-Related Infantile Nystagmus
FRMD7-related infantile nystagmus (FIN) is characterized by either the onset of horizontal, conjugate, gaze-dependent nystagmus in the first six months of life or periodic alternating nystagmus (with cyclical changes of nystagmus direction) of infantile onset. Binocular vision and color vision are normal and visual acuity is typically better than 6/12. An abnormal head posture is seen in approximately 15% of affected individuals. The eyes are structurally normal and electrophysiologic studies, such as visual evoked potential (VEP) and electroretinogram (ERG), are normal. Affected females report slightly better visual acuity than affected males; however, no differences between males and females in the amplitude, frequency, and waveform of nystagmus are observed. [from GeneReviews]
Authors:
Mervyn G Thomas  |  Shery Thomas  |  Anil Kumar, et. al.   view full author information

Additional descriptions

From OMIM
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). Congenital nystagmus may also be a feature of other ocular diseases, such as albinism (see, e.g., OCA1A, 203100), achromatopsia (see, e.g., ACHM3, 262300), and Leber congenital amaurosis (see, e.g., LCA1, 204000). Congenital nystagmus is associated with at least 3 X-linked disorders: Nettleship-Falls ocular albinism (OA1; 300500), which maps to Xp22.3; complete congenital stationary night blindness (CSNB1; 310500), which maps to Xp11.4; and blue-cone monochromatism (CBBM; 303700), which maps to Xq28. Genetic Heterogeneity of Congenital Nystagmus Two other X-linked forms of congenital nystagmus have been reported: NYS5 (300589), which maps to Xp11.4-p11.3, and NYS6 (300814), which is caused by mutation in the GPR143 gene (300808) on Xp22.3. Autosomal dominant forms have been mapped to chromosomes 6p12 (NYS2; 164100), 7p11 (NYS3; 608345), 13q (NYS4; 193003), and 1q31-q32 (NYS7; 614826). Autosomal recessive inheritance may rarely occur (see 257400).  http://www.omim.org/entry/310700
From GHR
X-linked infantile nystagmus is a condition characterized by abnormal eye movements. Nystagmus is a term that refers to involuntary side-to-side movements of the eyes. In people with this condition, nystagmus is present at birth or develops within the first six months of life. The abnormal eye movements may worsen when an affected person is feeling anxious or tries to stare directly at an object. The severity of nystagmus varies, even among affected individuals within the same family. Sometimes, affected individuals will turn or tilt their head to compensate for the irregular eye movements.  https://ghr.nlm.nih.gov/condition/x-linked-infantile-nystagmus

Clinical features

Horizontal nystagmus
MedGen UID:
124399
Concept ID:
C0271385
Disease or Syndrome
Nystagmus consisting of horizontal to-and-fro eye movements.
Congenital nystagmus
MedGen UID:
195995
Concept ID:
C0700501
Congenital Abnormality
Nystagmus dating from or present at birth.
Reduced visual acuity
MedGen UID:
461148
Concept ID:
C3149798
Finding
Pendular nystagmus
MedGen UID:
892479
Concept ID:
C4020734
Disease or Syndrome
Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.

Recent clinical studies

Etiology

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
Han R, Wang X, Wang D, Wang L, Yuan Z, Ying M, Li N
Sci Rep 2015 Jul 10;5:12031. doi: 10.1038/srep12031. PMID: 26160353Free PMC Article
AlMoallem B, Bauwens M, Walraedt S, Delbeke P, De Zaeytijd J, Kestelyn P, Meire F, Janssens S, van Cauwenbergh C, Verdin H, Hooghe S, Kumar Thakur P, Coppieters F, De Leeneer K, Devriendt K, Leroy BP, De Baere E
Invest Ophthalmol Vis Sci 2015 Feb 12;56(3):1701-10. doi: 10.1167/iovs.14-15938. PMID: 25678693
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
Thomas MG, Crosier M, Lindsay S, Kumar A, Thomas S, Araki M, Talbot CJ, McLean RJ, Surendran M, Taylor K, Leroy BP, Moore AT, Hunter DG, Hertle RW, Tarpey P, Langmann A, Lindner S, Brandner M, Gottlob I
Brain 2011 Mar;134(Pt 3):892-902. Epub 2011 Feb 8 doi: 10.1093/brain/awq373. PMID: 21303855Free PMC Article

Diagnosis

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
Han R, Wang X, Wang D, Wang L, Yuan Z, Ying M, Li N
Sci Rep 2015 Jul 10;5:12031. doi: 10.1038/srep12031. PMID: 26160353Free PMC Article
AlMoallem B, Bauwens M, Walraedt S, Delbeke P, De Zaeytijd J, Kestelyn P, Meire F, Janssens S, van Cauwenbergh C, Verdin H, Hooghe S, Kumar Thakur P, Coppieters F, De Leeneer K, Devriendt K, Leroy BP, De Baere E
Invest Ophthalmol Vis Sci 2015 Feb 12;56(3):1701-10. doi: 10.1167/iovs.14-15938. PMID: 25678693
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
Kumar A, Gottlob I, McLean RJ, Thomas S, Thomas MG, Proudlock FA
Invest Ophthalmol Vis Sci 2011 Apr 8;52(5):2306-13. doi: 10.1167/iovs.10-5685. PMID: 21220551

Therapy

Guo Y, Song Z, Xu H, Yi J, Zheng W, Xiang H, Deng X, Lv H, Gao K, Qi Y, Deng H
Can J Ophthalmol 2014 Feb;49(1):50-3. doi: 10.1016/j.jcjo.2013.09.001. PMID: 24513357

Prognosis

Gupta S, Pathak E, Chaudhry VN, Chaudhry P, Mishra R, Chandra A, Mukherjee A, Mutsuddi M
Neurosci Lett 2015 Jun 15;597:170-5. Epub 2015 Apr 24 doi: 10.1016/j.neulet.2015.04.037. PMID: 25916882
AlMoallem B, Bauwens M, Walraedt S, Delbeke P, De Zaeytijd J, Kestelyn P, Meire F, Janssens S, van Cauwenbergh C, Verdin H, Hooghe S, Kumar Thakur P, Coppieters F, De Leeneer K, Devriendt K, Leroy BP, De Baere E
Invest Ophthalmol Vis Sci 2015 Feb 12;56(3):1701-10. doi: 10.1167/iovs.14-15938. PMID: 25678693
Li N, Wang X, Wang Y, Wang L, Ying M, Han R, Liu Y, Zhao K
Mol Vis 2011 Feb 11;17:461-8. PMID: 21365021Free PMC Article
Shiels A, Bennett TM, Prince JB, Tychsen L
Mol Vis 2007 Nov 29;13:2233-41. PMID: 18087240
Gottlob I
Curr Opin Ophthalmol 2000 Oct;11(5):330-5. PMID: 11148698

Clinical prediction guides

Gupta S, Pathak E, Chaudhry VN, Chaudhry P, Mishra R, Chandra A, Mukherjee A, Mutsuddi M
Neurosci Lett 2015 Jun 15;597:170-5. Epub 2015 Apr 24 doi: 10.1016/j.neulet.2015.04.037. PMID: 25916882
AlMoallem B, Bauwens M, Walraedt S, Delbeke P, De Zaeytijd J, Kestelyn P, Meire F, Janssens S, van Cauwenbergh C, Verdin H, Hooghe S, Kumar Thakur P, Coppieters F, De Leeneer K, Devriendt K, Leroy BP, De Baere E
Invest Ophthalmol Vis Sci 2015 Feb 12;56(3):1701-10. doi: 10.1167/iovs.14-15938. PMID: 25678693
Li N, Wang X, Wang Y, Wang L, Ying M, Han R, Liu Y, Zhao K
Mol Vis 2011 Feb 11;17:461-8. PMID: 21365021Free PMC Article
Li N, Wang L, Cui L, Zhang L, Dai S, Li H, Chen X, Zhu L, Hejtmancik JF, Zhao K
Mol Vis 2008 Apr 18;14:733-8. PMID: 18431453Free PMC Article
Shiels A, Bennett TM, Prince JB, Tychsen L
Mol Vis 2007 Nov 29;13:2233-41. PMID: 18087240

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