Nystagmus 1, Congenital, X-linked; Nys1

Description

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 ), which maps to Xp22.3; complete congenital stationary night blindness (CSNB1 ), which maps to Xp11.4; and blue-cone monochromatism (CBBM ), which maps to Xq28. Genetic Heterogeneity of Congenital NystagmusTwo other X-linked forms of congenital nystagmus have been reported: NYS5 (OMIM ), which maps to Xp11.4-p11.3, and NYS6 (OMIM ), which is caused by mutation in the GPR143 gene (OMIM ) on Xp22.3. Autosomal dominant forms have been mapped to chromosomes 6p12 (NYS2 ), 7p11 (NYS3 ), 13q (NYS4 ), and 1q31-q32 (NYS7 ). Autosomal recessive inheritance may rarely occur (see {257400}).

Clinical Features

Top most frequent phenotypes and symptoms related to Nystagmus 1, Congenital, X-linked; Nys1

  • Nystagmus
  • Strabismus
  • Blindness
  • Reduced visual acuity
  • Abnormality of the nervous system
  • Abnormality of the eye
  • Nyctalopia
  • Abnormality of eye movement
  • Astigmatism
  • Vertigo

And another 18 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Nystagmus 1, Congenital, X-linked; Nys1 Is also known as nystagmus 1, infantile, x-linked, nystagmus, congenital motor, 1, iin, formerly, nystagmus, infantile idiopathic, formerly.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Nystagmus 1, Congenital, X-linked; Nys1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
FRMD7.

By Institute for Human Genetics University Clinic Freiburg (Germany).

FRMD7
Specificity
100 %
Genes
100 %
FRMD7. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

FRMD7
Specificity
100 %
Genes
100 %
Nystagmus 1, congenital idiopathic (sequence analysis of FRMD7 gene).

By CGC Genetics (Portugal).

FRMD7
Specificity
100 %
Genes
100 %
FRMD7-Associated X-linked Congenital Nystagmus 1 (NYS1) via FRMD7 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

FRMD7
Specificity
100 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 286 more genes
Specificity
1 %
Genes
100 %
FRMD7-Related Infantile Nystagmus.

By MGZ Medical Genetics Center (Germany).

FRMD7
Specificity
100 %
Genes
100 %
Eye Diseases - panels.

By MGZ Medical Genetics Center (Germany).

BFSP1, BFSP2, SALL2, BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TACSTD2, ZEB1, TFAP2A, TGFBI, TGIF1, TREX1, TYR, TYRP1, VAX1, VIM , (...)

View the complete list with 146 more genes
Specificity
1 %
Genes
100 %

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Sources and references

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