Most individuals with congenital nystagmus (CN) do not complain of oscillopsia (visual inconstancy) even though the amount of retinal image slip varies considerably according to gaze angle and CN waveform. We induced oscillopsia in four subjects with CN by artificially stabilizing images upon the retina under several conditions. Every subject reported oscillopsia during retinal image stabilizat...

PURPOSE To elucidate the molecular genetic defect of X-linked congenital nystagmus in a Chinese family. METHODS Genomic DNA was prepared from peripheral blood. We used allele-sharing analysis to identify the possible locus harboring the disease-causing gene. We screened for mutations in the G protein-coupled receptor 143 gene (GPR143) by direct sequencing of the polymerase chain reaction (PCR...

n U anc^ unprejudiced investigation he has given during \v0r]!a^t twelve years to the subject of Miners' Nystagmus. His Sung' ^ did n?t lay the foundations, has built up most of the bef0]jrStructure ?f our knowledge of this malady. The book v?lurn U-S *S a handsome, well-printed, and well-illustrated repQ ,e' 111 which Mr. Snell's inquiries and experiments are inter 6 an^ ̂ is conclusions clearl...

Nystagmus intensities at various gaze angles were studied both preoperatively and postoperatively, using accurate ocular motility recordings, in three cases of congenital nystagmus. In addition to shifting the nystagmus null, the surgery broadened the null region and resulted in an overall reduction in nystagmus intensity at all gaze angles. Surgical rotation also resulted in improved visual ac...

The authors investigated the mechanisms underlying the head shaking shown by some patients with congenital nystagmus (CN). In order to improve visual function by head shaking, a patient with CN must have some visual acuity loss due to retinal image motion created by the nystagmus; an abnormal vestibulo-ocular reflex (VOR); and the head shaking must be correlated with the nystagmus. The authors ...

PURPOSE To refine the interval for X-linked congenital idiopathic nystagmus at Xq24-q26.3 and to evaluate a novel candidate gene (Muscleblind-like 3 gene [MBNL3]). METHODS A single pedigree with congenital idiopathic nystagmus (CIN) inherited as an X-linked recessive trait underwent detailed clinical examination including nystagmology and electrophysiological investigation in selected subject...

Enlarged vestibular aqueduct (EVA) is one of the commonly identified congenital temporal bone abnormalities associated with sensorineural hearing loss. Hearing loss may be unilateral or bilateral, and typically presents at birth or in early childhood. Vestibular symptoms have been reported in up to 50% of affected individuals, and may be delayed in onset until adulthood. The details of nystagmu...

CASE REPORT We report the case of a 5 month-old male diagnosed with congenital nystagmus and oculocutaneous albinism. The initial examination showed pendular horizontal nystagmus with high amplitude and without blocking position or foveal fixation periods. A 2.5 IU injection of botulinum toxin was administered in the horizontal rectus muscles of both eyes in two sessions separated by 6 weeks. T...