Article
C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.
Investigative ophthalmology & visual science - 1 Aug 2017
Gerth-Kahlert Christina, Tiwari Amit, Hanson James V M, Batmanabane Vaishnavi, Traboulsi Elias, Pennesi Mark E, Al-Qahtani Abdullah A, Lam Byron L, Heckenlively John, Zweifel Sandrine A, Vincent Ajoy, Fierz Fabienne, Barthelmes Daniel, Branham Kari, Khan Naheed, Bahr Angela, Baehr Luzy, Magyar István, Koller Samuel, Azzarello-Burri Silvia, Niedrist Dunja, Heon Elise, Berger Wolfgang
Abstract excerpt
Purpose: To define the phenotype of C2orf71 associated retinopathy and to present novel mutations in this gene. Methods: A retrospective multicenter study of patients with retinopathy and identified C2orf71 mutations was performed. Ocular function (visual acuity, visual fields, electroretinogram [ERG] responses); retinal morphology (fundus, optical coherence tomography); and underlying mutations were analyzed....
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