Cristina L Mullins

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OBJECTIVE To determine the safety and efficacy of subretinal gene therapy in the RPE65 form of Leber congenital amaurosis using recombinant adeno-associated virus 2 (rAAV2) carrying the RPE65 gene. DESIGN Open-label, dose-escalation phase I study of 15 patients (range, 11-30 years of age) evaluated after subretinal injection of the rAAV2- RPE65 vector(More)
PURPOSE To investigate the human disease due to CRB1 mutations and compare results with the Crb1-mutant rd8 mouse. METHODS Twenty-two patients with CRB1 mutations were studied. Function was assessed with perimetry and electroretinography (ERG) and retinal structure with optical coherence tomography (OCT). Cortical structure and function were quantified(More)
Preterm delivery is currently the leading cause of perinatal morbidity and mortality. PROM is the most common easily identifiable cause of preterm delivery, present in 20-30% of preterm births. The conflicting results of success in prematurity prevention programs obtained by different investigators probably reflect the populations that were studied. Meis(More)
PURPOSE To quantify the retinal disease in Rpe65-deficient mice across a wide age span and compare the results to those in humans with Leber congenital amaurosis (LCA) caused by RPE65 mutations. METHODS Full-field electroretinograms (ERGs) were recorded from wild-type (C57BL/6; Rpe65(+/+)) and Rpe65(-/-) mice at ages ranging from ∼1 month to 2 years. A(More)
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