Disease relevance of Nystagmus, Congenital

• Patients with systemic disorders (including prematurity, neurologic disease, and genetic disease) and patients with ocular disorders (including congenital nystagmus, other strabismus, ptosis, and any condition associated with loss of vision [except amblyopia]) were grouped as "complex" strabismus [1].
• Ocular albinism type 1 (OA1) is an X-linked disorder mainly characterized by congenital nystagmus and photodysphoria, moderate to severe reduction of visual acuity, hypopigmentation of the retina, and the presence of macromelanosomes in the skin and eyes [2].
• Affected patients have the impaired vision, translucent irides, congenital nystagmus, photophobia, albinotic fundi with hypoplasia of the fovea, and strabismus that are also found in X-linked ocular albinism (XOA) [3].
• We report on a brother and a sister with congenital nystagmus, cone-rod dysfunction, high myopia, and aplasia cutis congenita on the midline of the scalp vertex [4].
• In two affected male cousins, one had congenital nystagmus and myopia, while the other was initially thought to have retinitis pigmentosa with optic atrophy and was hyperopic [5].

High impact information on Nystagmus, Congenital

• A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3 [6].
• Eleven oculocutaneous human albinos (six tyrosinase negative and five oculocutaneous positive), six patients with idiopathic congenital nystagmus, and six normal control subjects participated in the study [7].
• Our NBS patient exhibited congenital nystagmus (CN) waveforms when viewing at distance; the CN did not damp with convergence on a near target [8].
• CONCLUSIONS: Selected patients with myopia and congenital nystagmus may benefit from laser refractive surgery [9].
• Effects of tenotomy surgery on congenital nystagmus waveforms in adult patients. Part I. Wavelet spectral analysis [10].

Chemical compound and disease context of Nystagmus, Congenital

• Clinical and oculographic response to Tenuate Dospan (diethylpropionate) in a patient with congenital nystagmus [11].
• Congenital nystagmus may respond minimally to drugs (e.g., baclofen), but prisms or surgical procedures, or both, are still the primary treatment modalities [12].
• CONCLUSION: For unexplained reasons the stimulant Dexedrine "paradoxically" improved the nystagmus, binocular function and visual acuity in this patient with retinal dystrophy and congenital nystagmus [13].

Biological context of Nystagmus, Congenital

• Superimposition of ENG recording on video eye movements (congenital nystagmus) [14].

Anatomical context of Nystagmus, Congenital

• The prevalence of strabismus in congenital nystagmus: the influence of anterior visual pathway disease [15].
• Leber's hereditary optic neuropathy, optic nerve hypoplasia, Duane's retraction syndrome, congenital nystagmus, and other disorders of neuro-ophthalmic interest are discussed [16].

Gene context of Nystagmus, Congenital

• X-linked congenital nystagmus is a rare disorder in which affected males manifest binocular uniplanar nystagmus with associated head oscillation [17].
• This report describes two brothers with short stature, congenital nystagmus and microcephaly [18].
• Sensitivity analysis showed that increasing depth of focus (deadspace range between +/- DSP) increased the separation between the boundary lines of the deadspace region, with a larger separation associated with late-onset myopia and congenital nystagmus [19].
• Computer analysis of ENG spectral features from patients with congenital nystagmus [20].
• PURPOSE: Congenital esotropia is often associated with congenital nystagmus [21].

Analytical, diagnostic and therapeutic context of Nystagmus, Congenital

• Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay [22].

References