A novel GRK1 mutation in an Italian patient with Oguchi disease

Ophthalmic Genet. 2018 Jan-Feb;39(1):137-138. doi: 10.1080/13816810.2017.1323341. Epub 2017 May 16.

Authors

Dario Pasquale Mucciolo¹, Andrea Sodi¹, Vittoria Murro¹, Ilaria Passerini², Simona Palchetti², Elisabetta Pelo², Gianni Virgili¹, Stanislao Rizzo¹

Affiliations

¹ a Department of Translational Surgery and Medicine, Eye Clinic , University of Florence , Florence , Italy.
² b Department of Genetic Diagnosis , Careggi Teaching Hospital , Florence , Italy.

PMID: 28511019
DOI: 10.1080/13816810.2017.1323341

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Electroretinography
Eye Diseases, Hereditary
Female
G-Protein-Coupled Receptor Kinase 1 / genetics*
High-Throughput Nucleotide Sequencing
Humans
Italy
Mutation, Missense*
Night Blindness / diagnosis
Night Blindness / genetics*
Night Blindness / physiopathology
Retina / physiopathology
Tomography, Optical Coherence
Visual Fields / physiology

Substances

G-Protein-Coupled Receptor Kinase 1
GRK1 protein, human

Supplementary concepts

Oguchi disease