C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations | Zendy

Christina GerthKahlert | Zendy; Amit K. Tiwari | Zendy; James V. M. Hanson | Zendy; Vaishnavi Batmanabane | Zendy; Elias I. Traboulsi | Zendy; Mark E. Pennesi | Zendy; Abdullah Ali Alqahtani | Zendy; Byron L. Lam | Zendy; John R. Heckenlively | Zendy; Sandrine Zweifel | Zendy; Ajoy Vincent | Zendy; Fabienne C. Fierz | Zendy; Daniel Barthelmes | Zendy; Kari Branham | Zendy; Naheed W. Khan | Zendy; Angela Bahr | Zendy; Luzy Baehr | Zendy; I Magyar | Zendy; Samuel Koller | Zendy; Silvia AzzarelloBurri | Zendy; Dunja Niedrist | Zendy; Elise Héon | Zendy; Wolfgang Berger | Zendy

Open Access

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations

Author(s) -

Christina GerthKahlert,

Amit K. Tiwari,

James V. M. Hanson,

Vaishnavi Batmanabane,

Elias I. Traboulsi,

Mark E. Pennesi,

Abdullah Ali Alqahtani,

Byron L. Lam,

John R. Heckenlively,

Sandrine Zweifel,

Ajoy Vincent,

Fabienne C. Fierz,

Daniel Barthelmes,

Kari Branham,

Naheed W. Khan,

Angela Bahr,

Luzy Baehr,

I Magyar,

Samuel Koller,

Silvia AzzarelloBurri,

Dunja Niedrist,

Elise Héon,

Wolfgang Berger

Publication year - 2017

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.17-21597

Subject(s) - retinitis pigmentosa , maculopathy , ophthalmology , fundus (uterus) , electroretinography , visual acuity , medicine , retinal , retinal degeneration , retinopathy , locus heterogeneity , erg , biology , genetics , genetic heterogeneity , phenotype , endocrinology , gene , diabetes mellitus

To define the phenotype of C2orf71 associated retinopathy and to present novel mutations in this gene.

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