Nystagmus 1, congenital, X- linked

Common Name(s)

Nystagmus 1, congenital, X- linked, X-linked infantile nystagmus

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' ({24:Tarpey et al., 2006}; {22: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}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Nystagmus 1, congenital, X- linked" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Nystagmus 1, congenital, X- linked" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Nystagmus 1, congenital, X- linked" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Nystagmus 1, congenital, X- linked" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.