title: Pattern dystrophy with high intrafamilial variability associated with Y141C mutation in the peripherin/RDS gene and successful treatment of subfoveal CNV related to multifocal pattern type with anti-VEGF (ranibizumab) intravitreal injections.
abstract: OBJECTIVE
  To identify disease causing mutation in three generations of a Swiss family with pattern dystrophy and high intrafamilial variability of phenotype. To assess the effect of intravitreal ranibizumab injections in the treatment of subfoveal choroidal neovascularization associated with pattern dystrophy in one patient.
  
  
  METHODS
  Affected family members were ascertained for phenotypic and genotypic characterization. Ophthalmic evaluations included fundus photography, autofluorescence imaging, optical coherence tomography, and International Society for Clinical Electrophysiology of Vision standard full-field electroretinography. When possible family members had genetic testing. The proband presented with choroidal neovascularization and had intravitreal injections as needed according to visual acuity and optical coherence tomography.
  
  
  RESULTS
  Proband had a multifocal type pattern dystrophy, and his choroidal neovascularization regressed after four intravitreal injections. The vision improved from 0.8 to 1.0, and optical coherence tomography showed complete anatomical restoration. A butterfly-shaped pattern was observed in her cousin, whereas a fundus pulverulentus pattern was seen in a second cousin. Aunt had a multifocal atrophic appearance, simulating geographic atrophy in age-related macular degeneration. The Y141C mutation was identified in the peripherin/RDS gene and segregated with disease in the family.
  
  
  CONCLUSIONS
  This is the first report of marked intrafamilial variation of pattern dystrophy because of peripherin/RDS Y141C mutation. Intravitreal ranibizumab injections might be a valuable treatment for associated subfoveal choroidal neovascularization.
authors.affiliation: Hopital Ophtalmique Jules Gonin, Lausanne, Switzerland. veronika.vaclavik@fa2.ch
authors.forename: Veronika
authors.initials: V
authors.lastname: Vaclavik
authors.forename: Hoai V
authors.initials: HV
authors.lastname: Tran
authors.forename: Marie-Claire
authors.initials: MC
authors.lastname: Gaillard
authors.forename: Daniel F
authors.initials: DF
authors.lastname: Schorderet
authors.forename: Francis L
authors.initials: FL
authors.lastname: Munier
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D020533:Angiogenesis Inhibitors / Q000627:therapeutic use*; D061067:Antibodies, Monoclonal, Humanized / Q000627:therapeutic use*; D020256:Choroidal Neovascularization / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D058449:Intravitreal Injections; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D064531:Peripherins; D010641:Phenotype; D016133:Polymerase Chain Reaction; D000069579:Ranibizumab; D058499:Retinal Dystrophies / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D019233:Retreatment; D041623:Tomography, Optical Coherence; D016896:Treatment Outcome; D042461:Vascular Endothelial Growth Factor A / Q000037:antagonists & inhibitors; D014792:Visual Acuity / Q000502:physiology; D055815:Young Adult
chemical_list: D020533:Angiogenesis Inhibitors; D061067:Antibodies, Monoclonal, Humanized; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A; D000069579:Ranibizumab