Satoshi Katagiri Katsuhiro Hosono Takaaki Hayashi Kentaro Kurata Kei Mizobuchi Tomokazu Matsuura Kazutoshi Yoshitake Takeshi Iwata Tadashi Nakano Yoshihiro Hotta
Mol Vis
2018 Apr 9;24:286-296.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/29681726/
Eye Diseases, Hereditary / genetics Heterozygote Night Blindness / genetics Polymorphism, Single Nucleotide Retinal Diseases / genetics Retinal Dystrophies / genetics cis-trans-Isomerases / genetics
Eye Diseases, Hereditary / genetics Heterozygote Night Blindness / genetics Polymorphism, Single Nucleotide Retinal Diseases / genetics Retinal Dystrophies / genetics cis-trans-Isomerases / genetics Case Reports Research Support, Non-U.S. Gov't Adolescent Adult Age of Onset Amino Acid Substitution Dark Adaptation / physiology Electroretinography Exome Sequencing Eye Diseases, Hereditary / diagnosis Eye Diseases, Hereditary / pathology Female Gene Expression Humans Male Night Blindness / diagnosis Night Blindness / pathology Retinal Diseases / diagnosis Retinal Diseases / pathology Retinal Dystrophies / diagnosis Retinal Dystrophies / pathology Tomography, Optical Coherence Visual Acuity Visual Fields retinoid isomerohydrolase cis-trans-Isomerases Fleck Retina, Familial Benign
PMC5893010
29681726
Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants
2018