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We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific beta-tubulin isotype III, result in a spectrum of human nervous system disorders that we now call the TUBB3 syndromes. Each mutation causes the ocular motility disorder CFEOM3, whereas some also result in intellectual and behavioral impairments, facial paralysis,(More)
The mechanisms controlling axon guidance are of fundamental importance in understanding brain development. Growing corticospinal and somatosensory axons cross the midline in the medulla to reach their targets and thus form the basis of contralateral motor control and sensory input. The motor and sensory projections appeared uncrossed in patients with(More)
OBJECTIVE To determine the efficacy of photodynamic therapy (PDT) with verteporfin as a treatment for symptomatic polypoidal choroidal vasculopathy (PCV). DESIGN Prospective consecutive, 2-centered, noncomparative interventional case series. PARTICIPANTS Twenty-one Asian patients with 22 eyes presenting with serosanguinous maculopathy due to PCV and an(More)
OBJECTIVES We reported the interim findings of a randomized controlled trial (RCT) to examine the effects of a mind body physical exercise (Tai Chi) on cognitive function in Chinese subjects at risk of cognitive decline. SUBJECTS 389 Chinese older persons with either a Clinical Dementia Rating (CDR 0.5) or amnestic-MCI participated in an exercise program.(More)
PURPOSE To determine the aqueous levels of vascular endothelial growth factor (VEGF) and pigment epithelium-derived factor (PEDF) in patients with active polypoidal choroidal vasculopathy (PCV) and choroidal neovascularization (CNV) secondary to age-related macular degeneration (AMD) and pathologic myopia. DESIGN Prospective, comparative control study. (More)
PURPOSE To investigate the relationship between myopia and macular thickness, as measured by optical coherence tomography. METHODS A total of 143 normal subjects comprising 80 eyes with high myopia (spherical equivalent [SE] < -6.0 D), 37 eyes with low to moderate myopia (SE between -6.0 and -0.5 D), and 26 nonmyopic eyes (SE > -0.5 D) were analyzed in(More)
PURPOSE To characterize and grade the spectrum of foveal hypoplasia based on different stages of arrested development of the fovea. Grading was performed using morphologic findings obtained by ultra high-resolution spectral-domain optical coherence tomography. Best-corrected visual acuity (BCVA) was calculated for different grades. DESIGN Observational(More)
PURPOSE To evaluate the safety and efficacy of intravitreal bevacizumab in the treatment of idiopathic choroidal neovascularization (CNV) and CNV secondary to central serous chorioretinopathy (CSC) or punctate inner choroidopathy (PIC). DESIGN Prospective, nonrandomized, interventional case series. METHODS In an institutional clinical practice, 15(More)
Duane syndrome is a congenital eye movement disorder characterized most typically by absence of abduction, restricted adduction, and retraction of the globe on attempted adduction. Duane syndrome can be coinherited with radial ray anomalies as an autosomal dominant trait, referred to as "Okihiro syndrome" or "Duane radial ray syndrome" (DRRS). We(More)
Duane's retraction syndrome (DRS) is a complex congenital eye movement disorder caused by aberrant innervation of the extraocular muscles by axons of brainstem motor neurons. Studying families with a variant form of the disorder (DURS2-DRS), we have identified causative heterozygous missense mutations in CHN1, a gene on chromosome 2q31 that encodes(More)