Ontology highlight
ABSTRACT:
SUBMITTER: Audo I
PROVIDER: S-EPMC3102265 | biostudies-literature | 2010 Jul
REPOSITORIES: biostudies-literature
Audo Isabelle I Manes Gaël G Mohand-Saïd Saddek S Friedrich Anne A Lancelot Marie-Elise ME Antonio Aline A Moskova-Doumanova Veselina V Poch Oliver O Zanlonghi Xavier X Hamel Christian P CP Sahel José-Alain JA Bhattacharya Shomi S SS Zeitz Christina C
Investigative ophthalmology & visual science 20100217 7
<h4>Unlabelled</h4>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 ...[more]