Nicolas de Uzcátegui

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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)
PURPOSE A retrospective study was performed to review the management of periorbital and orbital cellulitis at Miami Children's Hospital, between January 1, 1993 and February 15, 1996. RESULTS One hundred and one patients were included in this study. The variables analyzed in this study included age, sex, length of hospital stay, imaging studies,(More)
PURPOSE Three congenital fibrosis of the extraocular muscles phenotypes (CFEOM1-3) have been identified. Each represents a specific form of paralytic strabismus characterized by congenital restrictive ophthalmoplegia, often with accompanying ptosis. It has been demonstrated that CFEOM1 results from mutations in KIF21A and CFEOM2 from mutations in PHOX2A.(More)
PURPOSE To review the clinical findings in orbitotemporal neurofibromatosis and discuss treatment options. Clinical features, histopathologic characteristics, and treatment options are reviewed. METHODS A Medline literature search from 1966 to 2004 was performed, using the key words: orbitotemporal neurofibromatosis, orbitopalpebral neurofibromatosis,(More)
PURPOSE To evaluate the efficacy of the transconjunctival entropion repair (TCER) for lower eyelid involutional entropion. DESIGN Retrospective, noncomparative, interventional case series. PARTICIPANTS One hundred fifty-one eyelids in 120 patients who underwent TCER for involutional entropion over a 12-year period from February 1991 through January(More)
PURPOSE To determine if amblyopia improves following surgical correction of congenital ptosis. METHODS Clinical records from 130 congenital ptosis patients presenting to the Childrens Hospital Los Angeles Department of Ophthalmology between January 1999 and April 2006 were retrospectively reviewed. Patient ages ranged from 2 months to 17 years old.(More)
PURPOSE This paper aims to present a case of iatrogenic injury to the globe during cosmetic eyelid blepharopigmentation (tattooing). DESIGN/METHODS Observational case report. RESULTS A 46-year-old Asian female presented with chemosis and injection of the conjunctiva one day following cosmetic blepharopigmentation. The tattoo needle had penetrated(More)
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