نتایج جستجو برای: lebers congenital amaurosis

تعداد نتایج: 120868  

Journal: :Clinical and Experimental Ophthalmology 2021

Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders characterised by photoreceptor degeneration or dysfunction. These typically present with severe vision loss that can be progressive, disease onset ranging from congenital to late adulthood. The advances in genetics, imaging molecular biology, have conspired create the ideal environment for establ...

Journal: :Journal of American Association for Pediatric Ophthalmology and Strabismus 2009

Journal: :PLoS Medicine 2005
Henrik Vorum Morten Østergaard Greg E Rice Toke Bek

Background: To identify the pattern of protein expression in the retina from a patient with Leber's Congenital Amaurosis (LCA) secondary to a mutation in the AIPL1 gene. The retina from one eye of a patient with LCA and 7 control eyes were studied. The tissue was subjected to high resolution two-dimensional gel electrophoresis, image analysis and mass spectrometry, in an effort to identify diff...

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