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BACKGROUND Since they were first derived more than three decades ago, embryonic stem cells have been proposed as a source of replacement cells in regenerative medicine, but their plasticity and unlimited capacity for self-renewal raises concerns about their safety, including tumour formation ability, potential immune rejection, and the risk of(More)
PURPOSE To assess the allelic variation of the ATP-binding transporter protein (ABCA4). METHODS A combination of single-strand conformation polymorphism (SSCP) and automated DNA sequencing was used to systematically screen this gene for sequence variations in 374 unrelated probands with a clinical diagnosis of Stargardt disease, 182 patients with(More)
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder with the primary clinical features of obesity, pigmented retinopathy, polydactyly, hypogenitalism, mental retardation and renal anomalies. Associated features of the disorder include diabetes mellitus, hypertension and congenital heart disease. There are six known BBS(More)
BACKGROUND Neuromyelitis optica (NMO) is a severe demyelinating disease often leading to serious disability. Accumulating evidence now implicates humoral mechanisms in its pathogenesis. In the absence of an approved therapy, anti-inflammatory/immunosuppressant drugs have been used empirically for more than three decades. Recent evidence for a role of(More)
OBJECTIVE To assess the frequency of mutations in the CRX, GUCY2D, and RPE65 genes in patients with Leber congenital amaurosis (LCA). PATIENTS One hundred seventy-six probands with a clinical diagnosis of LCA were from 9 countries, with the largest subgroup being 39 probands from India. METHODS Samples were screened with single-strand conformation(More)
Humphrey visual fields (30-2 program) were performed on 24 otherwise healthy patients before and after cataract extraction to examine the effect of cataract on automated visual fields. All patients met reliability index criteria and recovered visual acuity of 20/25 or better. The effect of learning associated with repeated testing was controlled with visual(More)
PURPOSE To report mild enhanced s-cone syndrome (ESCS) associated with a novel heterozygous mutation of the NR2E3 gene. DESIGN Observational case report. METHODS Clinical examination, optical coherence tomography (OCT), electroretinography (ERG), genetic analysis, and protein homology modeling. RESULTS Examination of a 9-year-old girl with acute(More)
OBJECTIVE To determine the association between reported concurrent visual and hearing impairment and risk of mortality. DESIGN, SETTING, AND PARTICIPANTS Annual cross-sectional multistage area probability surveys of the US civilian noninstitutionalized population living at addressed dwellings were conducted by the National Center for Health Statistics,(More)
Dural sinus hypertension from cerebral venous outflow impairment is a cause of pseudotumor cerebri. The authors documented six such patients: two with unilateral neck dissection, one with surgical ligation of the dominant sigmoid sinus, two with thrombosed central intravenous catheterization, and one with dural sinus thrombosis. The site of cerebral venous(More)
PURPOSE To evaluate electroretinography (ERG) during long-term follow-up in birdshot chorioretinopathy (BCR). DESIGN Retrospective, comparative interventional case series. METHODS SETTING University subspecialty clinic. PATIENT POPULATION Twenty-three HLA-A29-positive patients with BCR and 40 normal control subjects. INTERVENTION PROCEDURE:(More)