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 av...
Topics
- Adolescent
- Adult
- Aged
- Alleles
- Carrier Proteins
- Ciliary Body
- DNA
- DNA Mutational Analysis
- Exome
- Female
- Fluorescein Angiography
- Fundus Oculi
- Genotype
- Humans