Ontology highlight
ABSTRACT:
SUBMITTER: Boulanger-Scemama E
PROVIDER: S-EPMC6801687 | biostudies-literature | 2019 Sep
REPOSITORIES: biostudies-literature
Boulanger-Scemama Elise E Mohand-Saïd Saddek S El Shamieh Said S Démontant Vanessa V Condroyer Christel C Antonio Aline A Michiels Christelle C Boyard Fiona F Saraiva Jean-Paul JP Letexier Mélanie M Sahel José-Alain JA Zeitz Christina C Audo Isabelle I
International journal of molecular sciences 20190930 19
Phenotypes observed in a large cohort of patients with cone and cone-rod dystrophies (COD/CORDs) are described based on multimodal retinal imaging features in order to help in analyzing massive next-generation sequencing data. Structural abnormalities of 58 subjects with molecular diagnosis of COD/CORDs were analyzed through specific retinal imaging including spectral-domain optical coherence tomography (SD-OCT) and fundus autofluorescence (BAF/IRAF). Findings were analyzed with the underlying g ...[more]