title: PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation.
abstract: OBJECTIVE
  To assess the occurrence of PRPH2 mutations in patients presenting macular dystrophies and to describe their phenotype-genotype correlation.
  
  
  METHODS
  A total of 32 sporadic cases and 13 individuals from 5 families were studied. The patients presented early onset drusen, suspected pattern dystrophy (including adult-onset foveomacular vitelliform dystrophy [AOFVD]), or any presumed macular dystrophy producing neovascularization or atrophic changes documented before patients reached 50 years of age. In case of atrophy, this could be confined to the macula, which was considered to be central areolar choroidal dystrophy (CACD), or extend to the midperiphery of the retina, which we called diffuse macular dystrophy (DMD). Clinical workup and analysis of PRPH2, EFEMP1, and TIMP3 genes were done.
  
  
  RESULTS
  Four mutations of the PRPH2 gene were found in 3 sporadic cases and 3 families (n = 11). A p.R46X mutation, previously described in CACD, was found in 3 members of a family with AOFVD and in a sporadic case with DMD. A p.L45F mutation, described before in retinitis pigmentosa, was found in a sporadic case of AOFVD. A p.R195L mutation previously described in CACD was found in 2 members of a family with CACD. The latter was found in a family and a sporadic case (from the same village as the family) and all of them presented DMD. A new p.V2091 mutation was found in a patient with AOFVD.
  
  
  CONCLUSIONS
  New phenotypes were found for known mutations. No phenotype variation was observed in the members of the 3 families. A new mutation in PRPH2 gene was found.
authors.affiliation: Instituto de Oftalmobiología Aplicada (IOBA), Universidad de Valladolid, Valladolid, Spain. rosa@ioba.med.uva.es
authors.forename: Rosa M
authors.initials: RM
authors.lastname: Coco
authors.forename: Juan J
authors.initials: JJ
authors.lastname: Tellería
authors.forename: M Rosa
authors.initials: MR
authors.lastname: Sanabria
authors.forename: Enrique
authors.initials: E
authors.lastname: Rodríguez-Rúa
authors.forename: M Teresa
authors.initials: MT
authors.lastname: García
mesh_terms: D000328:Adult; D000368:Aged; D004247:DNA / Q000235:genetics*; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D020022:Genetic Predisposition to Disease; D006801:Humans; D015994:Incidence; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008268:Macular Degeneration / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D064531:Peripherins; D016133:Polymerase Chain Reaction; D012189:Retrospective Studies; D013030:Spain / Q000453:epidemiology; D055815:Young Adult
chemical_list: D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; D004247:DNA