title: Late-onset central areolar choroidal dystrophy caused by a heterozygous frame-shift mutation affecting codon 307 of the peripherin/RDS gene.
abstract: Mutations in the peripherin/RDS gene have been identified in families with various retinopathies including those affecting primarily the macula and those restricted to the retinal periphery. Here, we describe the clinical findings of two sisters with late-onset central areolar choroidal dystrophy (CACD). The two siblings underwent genetic testing and were found to be carriers of a heterozygous frame-shift mutation 920delT affecting codon 307 of the peripherin/RDS gene and resulting in a truncated, likely functionless, protein with an altered C-terminus (Leu307fsX83). The identical mutation has previously been reported to cause slowly progressive autosomal dominant retinitis pigmentosa. In our two patients, the Leu307fsX83 mutation accounts for an unusually mild form of retinal degeneration.
authors.affiliation: Department of Ophthalmology, University Hospital, Würzburg, Germany. c.keilhauer@augenklinik.uni-wuerzburg.de
authors.forename: Claudia N
authors.initials: CN
authors.lastname: Keilhauer
authors.forename: Thomas
authors.initials: T
authors.lastname: Meigen
authors.forename: Heidi
authors.initials: H
authors.lastname: Stöhr
authors.forename: Bernhard H F
authors.initials: BH
authors.lastname: Weber
mesh_terms: D000368:Aged; D015862:Choroid Diseases / Q000235:genetics*; D003062:Codon / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D016368:Frameshift Mutation; D006580:Genetic Carrier Screening; D006579:Heterozygote; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008562:Membrane Glycoproteins / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D064531:Peripherins; D012162:Retinal Degeneration / Q000235:genetics*; D035781:Siblings; D014794:Visual Fields
chemical_list: D003062:Codon; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins