Kaoru Fujinami

Abstract Inherited retinal degenerations (IRDs) are a group of clinically and genetically heterogeneous blinding disorders. In this study, we describe five families clearly or which were presumed to be diagnosed with autosomal recessive non-syndromic IRD and one with mild syndromic IRD, in which affected probands carried rare bi-allelic variants in SCLT1, a gene previously associated with multiple autosomal recessive ciliopathies.

April 14, 2019 | Ophthalmology | University College London Purpose . To illustrate a data-driven deep learning approach to predicting the gene responsible for the inherited retinal disorder (IRD) in macular dystrophy caused by ABCA4 and RP1L1 gene aberration in comparison with retinitis pigmentosa caused by EYS gene aberration and normal subjects. Methods .

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