Pierrache, Laurence H M <br/><br/>
Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy.  [electronic resource] 

 -  Investigative ophthalmology & visual science  05 2019 
 - 2049-2063 p.  digital 
<br/><br/> Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-5783 
<br/><br/><label>Standard No.: </label>10.1167/iovs.18-25531  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Aged<br/>Aged, 80 and over<br/>DNA Mutational Analysis<br/>Electroretinography<br/>Eye Proteins--genetics<br/>Female<br/>Homozygote<br/>Humans<br/>Macular Degeneration--diagnosis<br/>Male<br/>Middle Aged<br/>Mutation<br/>Pedigree<br/>Phenotype<br/>RNA, Messenger--genetics<br/>Retina--metabolism<br/>Retinitis Pigmentosa--diagnosis<br/>Tomography, Optical Coherence<br/>Visual Acuity<br/>Young Adult