Article
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.
Investigative ophthalmology & visual science - 1 Mar 2016
Hull Sarah, Owen Nicholas, Islam Farrah, Tracey-White Dhani, Plagnol Vincent, Holder Graham E, Michaelides Michel, Carss Keren, Raymond F Lucy, Rozet Jean-Michel, Ramsden Simon C, Black Graeme C M, Perrault Isabelle, Sarkar Ajoy, Moosajee Mariya, Webster Andrew R, Arno Gavin, Moore Anthony T
Abstract excerpt
PURPOSE: Mutations in the ciliary transporter gene IFT140, usually associated with a severe syndromic ciliopathy, may also cause isolated retinal dystrophy. A series of patients with nonsyndromic retinitis pigmentosa (RP) due to IFT140 was investigated in this study. METHODS: Five probands and available affected family members underwent detailed phenotyping including retinal imaging and electrophysiology. Whole...
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