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X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disorder characterized by night blindness, decreased visual acuity, myopia, nystagmus and strabismus. Two distinct clinical entities of X-linked CSNB have been proposed. Patients with complete CSNB show moderate to severe myopia, undetectable rod function and a(More)
Myopathies are a clinically and etiologically heterogeneous group of disorders that can range from limb girdle muscular dystrophy (LGMD) to syndromic forms with associated features including intellectual disability. Here, we report the identification of mutations in transport protein particle complex 11 (TRAPPC11) in three individuals of a consanguineous(More)
PURPOSE To describe the presenting features and surgical outcomes in a series of children with rhegmatogenous retinal detachments. DESIGN Retrospective, noncomparative, interventional case series. PARTICIPANTS Thirty-nine eyes of 34 children 18 years of age or younger undergoing surgery for rhegmatogenous retinal detachment. METHODS Patients were(More)
Comparisons of lymphocyte surface phenotypes and functions were made among 25 pediatric patients with congenital toxoplasmosis (ages 1 month to 5 years) and 24 uninfected babies, a baby with postnatally acquired infection, and 6 uninfected, 7 recently infected, and 6 chronically infected adults. Percentages of lymphocytes with B1, T11, T3, T4, T8, T6, B4,(More)
To assess the natural history of optic pathway tumors (OPT) in children with neurofibromatosis type 1 (NF-1), from January 1985 through May 1993 we performed a prospective, longitudinal study of OPT in an unselected population of children with NF-1. Of 227 children with NF-1 seen in a specialty clinic, 176 (77%) underwent neuroimaging. Children in whom(More)
Between December 1981 and May 1991, 44 infants and children with congenital toxoplasmosis were referred to our study group. A uniform approach to evaluation and therapy was developed and is described herein along with the clinical characteristics of these infants and children. In addition, case histories that illustrate especially important clinical(More)
Usher's syndrome (US) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss and retinitis pigmentosa. The majority of affected individuals have severe to profound sensorineural hearing loss and are therefore potential cochlear implant candidates. A goal of our otology program has been early identification and implantation(More)
Optic atrophy (OA) and sensorineural hearing loss (SNHL) are key abnormalities in several syndromes, including the recessively inherited Wolfram syndrome, caused by mutations in WFS1. In contrast, the association of autosomal dominant OA and SNHL without other phenotypic abnormalities is rare, and almost exclusively attributed to mutations in the Optic(More)
Specular microscopy of the in vivo corneal endothelium of 214 clinically normal eyes in children ranging from 5 to 14 years of age showed a regular mosaic of hexagonal cells. The cell population density of individuals presented some variation, as it doses in older subjects. Quantitative analysis permitted us to determine the normal range of the endothelial(More)