Spectrum of Rhodopsin Mutations in French Autosomal Dominant Rod–Cone Dystrophy Patients | Zendy

Isabelle Audo | Zendy; Gae͏̈l Manes | Zendy; Saddek MohandSaïd | Zendy; Anne Friedrich | Zendy; MarieElise Lancelot | Zendy; Aline Antonio | Zendy; Veselina MoskovaDoumanova | Zendy; Oliver Poch | Zendy; Xavier Zanlonghi | Zendy; Christian P. Hamel | Zendy; JoséAlain Sahel | Zendy; Shomi S. Bhattacharya | Zendy; Christina Zeitz | Zendy

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Spectrum of Rhodopsin Mutations in French Autosomal Dominant Rod–Cone Dystrophy Patients

Author(s) -

Isabelle Audo,

Gae͏̈l Manes,

Saddek MohandSaïd,

Anne Friedrich,

MarieElise Lancelot,

Aline Antonio,

Veselina MoskovaDoumanova,

Oliver Poch,

Xavier Zanlonghi,

Christian P. Hamel,

JoséAlain Sahel,

Shomi S. Bhattacharya,

Christina Zeitz

Publication year - 2010

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.09-4766

Subject(s) - rhodopsin , dystrophy , genetics , cone (formal languages) , ophthalmology , medicine , mutation , biology , retinal , gene , mathematics , algorithm

PURPOSE. To identify the prevalence of rhodopsin (RHO) mutations in French patients with autosomal dominant rod-cone dystrophies (adRPs). Methods. Detailed phenotypic characterization was performed, including precise family history, best corrected visual acuity with the ETDRS chart, slit lamp examination, kinetic and static perimetry, full-field and multifocal electroretinography (ERG), fundus autofluorescence imaging (FAF), and optical coherence tomography (OCT). For genetic diagnosis, genomic DNA of 79 families was isolated by standard

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