title: Novel mutation in BEST1 associated with retinoschisis.
authors.affiliation: Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, Florida 33136, USA.
authors.forename: Ruwan A
authors.initials: RA
authors.lastname: Silva
authors.forename: Audina M
authors.initials: AM
authors.lastname: Berrocal
authors.forename: Byron L
authors.initials: BL
authors.lastname: Lam
authors.forename: Thomas A
authors.initials: TA
authors.lastname: Albini
mesh_terms: D000075002:Bestrophins; D002648:Child; D018118:Chloride Channels / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D004585:Electrooculography; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005451:Fluorescein Angiography; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D041441:Retinoschisis / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D035781:Siblings; D041623:Tomography, Optical Coherence; D014792:Visual Acuity; D057826:Vitelliform Macular Dystrophy / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology
chemical_list: C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins