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X-linked infantile nystagmus(NYS1; XIPAN)

MedGen UID:
333352
Concept ID:
C1839580
Disease or Syndrome
Synonyms: congenital motor nystagmus; NYS1; Nystagmus 1, congenital, X- linked; NYSTAGMUS 1, INFANTILE, X-LINKED; Nystagmus, congenital motor, 1; NYSTAGMUS, INFANTILE IDIOPATHIC; NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED; X-linked congenital nystagmus; X-linked idiopathic infantile nystagmus; XIPAN
Modes of inheritance:
Heterogeneous
MedGen UID:
5539
Concept ID:
C0019409
Qualitative Concept
Made up of elements or ingredients that are not alike.
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
X-linked recessive inheritance
MedGen UID:
425042
Concept ID:
CN001297
Genetic Function
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.
 
Gene: FRMD7
Cytogenetic location: 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]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Testing Strategy  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
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.  http://ghr.nlm.nih.gov/condition/x-linked-infantile-nystagmus

Clinical features

Horizontal nystagmus
MedGen UID:
504546
Concept ID:
CN000627
Finding
Nystagmus consisting of horizontal to-and-fro eye movements.
Congenital nystagmus
MedGen UID:
506008
Concept ID:
CN006048
Finding
Nystagmus dating from or present at birth.
Pendular nystagmus
MedGen UID:
506653
Concept ID:
CN167769
Finding
Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.

Recent clinical studies

Etiology

Khan AO, Shinwari J, Al-Sharif L, Khalil DS, Al Tassan N
Arch Ophthalmol 2011 Jul;129(7):936-40. doi: 10.1001/archophthalmol.2011.166. PMID: 21746984
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

Diagnosis

Gottlob I, Proudlock FA
Curr Opin Neurol 2014 Feb;27(1):83-91. doi: 10.1097/WCO.0000000000000058. PMID: 24346039
Song FW, Chen BB, Sun ZH, Wu LP, Zhao SJ, Miao Q, Tang XJ
J Zhejiang Univ Sci B 2013 Jun;14(6):479-86. doi: 10.1631/jzus.B1200259. PMID: 23733424Free PMC Article
Khan AO, Shinwari J, Al-Sharif L, Khalil DS, Al Tassan N
Arch Ophthalmol 2011 Jul;129(7):936-40. doi: 10.1001/archophthalmol.2011.166. PMID: 21746984

Prognosis

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

Clinical prediction guides

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

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