Learn More
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)
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)
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)
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)
Immunorestitution disease (IRD) is defined as an acute symptomatic or paradoxical deterioration of a (presumably) preexisting infection that is temporally related to the recovery of the immune system. We report the temporal sequence of events that led to IRD caused by Pneumocystis carinii and Aspergillus terreus in 2 human immunodeficiency virus(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)
AIM To evaluate the efficacy of intravitreal bevacizumab (Avastin) with or without verteporfin photodynamic therapy (PDT) in the treatment of polypoidal choroidal vasculopathy (PCV). METHODS Fifteen eyes of 15 patients with symptomatic PCV who received three monthly intravitreal bevacizumab were retrospectively reviewed. Subsequent retreatments with(More)
PURPOSE To evaluate the early changes in retinal function after photodynamic therapy (PDT) by multifocal electroretinogram (mfERG). DESIGN Prospective interventional case series. METHODS Seventeen eyes from 17 patients scheduled for standard PDT with verteporfin were prospectively recruited. Patients' diagnoses included choroidal neovascularization(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)
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)