title: Late-onset retinal degeneration caused by C1QTNF5 mutation: sub-retinal pigment epithelium deposits and visual consequences.
authors.affiliation: Scheie Eye Institute, University of Pennsylvania, Philadelphia.
authors.forename: Samuel G
authors.initials: SG
authors.lastname: Jacobson
authors.affiliation: Scheie Eye Institute, University of Pennsylvania, Philadelphia.
authors.forename: Artur V
authors.initials: AV
authors.lastname: Cideciyan
authors.affiliation: Scheie Eye Institute, University of Pennsylvania, Philadelphia.
authors.forename: Alexander
authors.initials: A
authors.lastname: Sumaroka
authors.affiliation: Scheie Eye Institute, University of Pennsylvania, Philadelphia.
authors.forename: Alejandro J
authors.initials: AJ
authors.lastname: Roman
authors.affiliation: Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, Scotland.
authors.forename: Alan F
authors.initials: AF
authors.lastname: Wright
mesh_terms: D000368:Aged; D003094:Collagen / Q000235:genetics*; D005451:Fluorescein Angiography; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D020419:Photoreceptor Cells, Vertebrate / Q000502:physiology*; D012162:Retinal Degeneration / Q000235:genetics* / Q000503:physiopathology; D055213:Retinal Pigment Epithelium / Q000473:pathology*; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology*
chemical_list: C487851:C1QTNF5 protein, human; D003094:Collagen