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Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus
Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linkedExpand
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The prevalence of nystagmus: the Leicestershire nystagmus survey.
PURPOSE Nystagmus, which can be infantile (congenital) or acquired, affects all ages. The prevalence of nystagmus in the general population is unknown. New genetic research and therapeutic modalitiesExpand
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In Vivo Foveal Development Using Optical Coherence Tomography.
PURPOSE To characterize the time course of normal foveal development in vivo in term infants and young children using handheld spectral-domain optical coherence tomography (HH-SDOCT). METHODS WeExpand
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Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.
Idiopathic infantile nystagmus (IIN) consists of involuntary oscillations of the eyes. The familial form is most commonly X-linked. We recently found mutations in a novel gene FRMD7 (Xq26.2), whichExpand
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Nystagmus in childhood.
Nystagmus is an involuntary rhythmic oscillation of the eyes, which leads to reduced visual acuity due to the excessive motion of images on the retina. Nystagmus can be grouped into infantileExpand
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Clinical and oculomotor characteristics of albinism compared to FRMD7 associated infantile nystagmus.
PURPOSE Previous studies have found no difference between nystagmus characteristics associated with idiopathic infantile nystagmus (IIN) and that associated with albinism. The present aim is toExpand
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Congenital nystagmus: Randomized, controlled, double‐masked trial of memantine/gabapentin
Nystagmus consists of involuntary to and fro movements of the eyes. Although studies have shown that memantine and gabapentin can reduce acquired nystagmus, no drug treatment has been systematicallyExpand
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Risk factors and genetics in common comitant strabismus: a systematic review of the literature.
IMPORTANCE Understanding the development of common strabismus is important in locating "at-risk" populations and implementing optimal treatment. This systematic review will bring together reportedExpand
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Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia
Aims To characterise longitudinal progressive retinal changes in achromatopsia. Methods Ultrahigh-resolution spectral optical coherence tomography (Copernicus, 3 μm axial resolution) was used toExpand
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The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus.
Periodic alternating nystagmus consists of involuntary oscillations of the eyes with cyclical changes of nystagmus direction. It can occur during infancy (e.g. idiopathic infantile periodicExpand
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