Article
A clinical and molecular characterisation of CRB1-associated maculopathy.
European journal of human genetics : EJHG - 1 May 2018
Khan Kamron N, Robson Anthony, Mahroo Omar A R, Arno Gavin, Inglehearn Chris F, Armengol Monica, Waseem Naushin, Holder Graham E, Carss Keren J, Raymond Lucy F, Webster Andrew R, Moore Anthony T, McKibbin Martin, van Genderen Maria M, Poulter James A, Michaelides Michel
Abstract excerpt
To date, over 150 disease-associated variants in CRB1 have been described, resulting in a range of retinal disease phenotypes including Leber congenital amaurosis and retinitis pigmentosa. Despite this, no genotype-phenotype correlations are currently recognised. We performed a retrospective review of electronic patient records to identify patients with macular dystrophy due to bi-allelic variants in CRB1. In...
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