Article
Multimodal Imaging in Autosomal Dominant Cone-Rod Dystrophy Caused by Novel CRX Variant.
Ophthalmic research - 1 Jan 2018
D'Esposito Fabiana, Cennamo Gilda, de Crecchio Giuseppe, Maltese Paolo Enrico, Cecchin Stefano, Bertelli Matteo, Ziccardi Lucia, Esposito Veneruso Paolo, Magli Adriano, Cennamo Giovanni, Cordeiro Maria Francesca
Abstract excerpt
AIM: To characterize by multimodal approach the phenotype of patients from a 3 generations pedigree, affected by autosomal dominant cone-rod dystrophy (CRD), found to carry a novel pathogenic variant in the cone-rod homeobox-containing (CRX) gene. METHODS: Examination of the adult patients included the following tests: visual acuity, multicolour imaging, spectral domain optical coherence tomography (SD-OCT),...
Topics
- Adult
- Child, Preschool
- Cyclic Nucleotide-Gated Cation Channels
- Electroretinography
- Female
- Homeodomain Proteins
- Humans
- Male
- Multimodal Imaging
- Night Vision