title: Novel compound heterozygous mutations resulting in cone dystrophy with supernormal rod response.
authors.affiliation: Cleveland Clinic Lerner College of Medicine, Case Western Reserve University, Cleveland, Ohio.
authors.forename: Tamara Lee
authors.initials: TL
authors.lastname: Lenis
authors.forename: Elona
authors.initials: E
authors.lastname: Dhrami-Gavazi
authors.forename: Winston
authors.initials: W
authors.lastname: Lee
authors.forename: Sri Krishna
authors.initials: SK
authors.lastname: Mukkamala
authors.forename: Mirela Raluca
authors.initials: MR
authors.lastname: Tabacaru
authors.forename: Lawrence
authors.initials: L
authors.lastname: Yannuzzi
authors.forename: Peter
authors.initials: P
authors.lastname: Gouras
authors.forename: Stephen H
authors.initials: SH
authors.lastname: Tsang
mesh_terms: D004596:Electroretinography; D005451:Fluorescein Angiography; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009887:Ophthalmoscopy; D024642:Potassium Channels, Voltage-Gated / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000235:genetics*; D041623:Tomography, Optical Coherence; D014792:Visual Acuity; D058609:Visual Field Tests
chemical_list: C489610:KCNV2 protein, human; D024642:Potassium Channels, Voltage-Gated
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