title: Intrafamilial clinical heterogeneity associated with a novel mutation of the retinal degeneration slow/peripherin gene.
abstract: OBJECTIVE
  To identify the phenotypic variations in 6 related individuals affected by a novel mutation in the retinal degeneration slow/peripherin gene.
  
  
  METHODS
  Ten family members underwent ophthalmologic assessment with slit-lamp biomicroscopy, dilated fundus examination, fundus photography, autofluorescence imaging and electrophysiological tests. Genomic DNA was extracted from blood samples of all family members (n = 15) using the standard salting-out procedure.
  
  
  RESULTS
  The novel C165R mutation was identified in 8 individuals. Of these 8 patients, only 6 gave consent to the clinical study. They had a retinal disease characterized by an adulthood onset of symptoms, and their best corrected visual acuity was between 20/50 and 20/20. Fundus examination showed that 3 patients had typical fundus flavimaculatus: 1 had butterfly-shaped pattern dystrophy and 2 had incipient retinal changes.
  
  
  CONCLUSIONS
  We identified a novel mutation of the retinal degeneration slow/peripherin gene in a family affected by different patterns of retinal dystrophy. This is the first report of an association of fundus flavimaculatus with butterfly-shaped pattern dystrophy.
authors.affiliation: Department of Ophthalmology, Second University of Naples, Naples, Italy. franctes@tin.it
authors.forename: Francesca
authors.initials: F
authors.lastname: Simonelli
authors.forename: Francesco
authors.initials: F
authors.lastname: Testa
authors.forename: Valeria
authors.initials: V
authors.lastname: Marini
authors.forename: Emanuela
authors.initials: E
authors.lastname: Interlandi
authors.forename: Settimio
authors.initials: S
authors.lastname: Rossi
authors.forename: Derri Roman
authors.initials: DR
authors.lastname: Pognuz
authors.forename: Gianni
authors.initials: G
authors.lastname: Virgili
authors.forename: Cecilia
authors.initials: C
authors.lastname: Garrè
authors.forename: Francesco
authors.initials: F
authors.lastname: Bandello
mesh_terms: D000368:Aged; D001120:Arginine; D003545:Cysteine; D004585:Electrooculography; D004596:Electroretinography; D005453:Fluorescence; D005654:Fundus Oculi; D018740:Genetic Heterogeneity; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D064531:Peripherins; D010641:Phenotype; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D014792:Visual Acuity
chemical_list: D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; D064531:Peripherins; D001120:Arginine; D003545:Cysteine