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• W31815539 abstract "The peripherin/RDS gene encodes a glycoprotein whichis confined to the outer segment disk of both rod and conephotoreceptor cells [1,2]. The normal product of this gene,peripherin, interacts in vivo with rod outer segment membraneprotein 1 (ROM1) in rods and plays an important structuralrole in photoreceptor outer segments [3]. Over 70 mutationsin the peripherin/RDS gene have been reported in autosomaldominant retinitis pigmentosa (ADRP) and autosomal domi-nant macular dystrophy (adMD) [4-9], including a digenic traitwith the ROM1 gene [10]. Phenotypic variation has been ob-served with different mutations in this gene, with an extremecase of variable phenotypes within a family having a singlemutation showing retinitis pigmentosa (RP) and macular dys-trophy (MD) [11,12]. In our previous screening for mutationsin the peripherin/RDS gene and in other RP and MD relatedgenes in index cases of autosomal dominant retinopathies andsimplex cases of RP, we found a lower contribution (1.3%) ofmutations in peripherin/RDS to ADRP [13] in a Spanish popu-lation as compared to other screened populations. However,we found a relatively high association (23%) of mutations inthis gene in families with autosomal dominant macular dys-trophies. As reported in other populations, variability in macu-lar dystrophy phenotype is also observed in this Spanish popu-lation. We report the different macular dystrophy phenotypesassociated with mutations in the peripherin/RDS gene foundin a Spanish population and compare these phenotypes withthe associated mutations reported in other populations.METHODS A cohort of 61 unrelated patients with various types of auto-somal dominant macular dystrophies, aged between 26 and75 years, participated in this study. Patients were recruitedfrom Fundacion Jimenez Diaz (Madrid, Spain), Hospital de laSanta Creu i Sant Pau (Barcelona, Spain) and Hospital deTerrassa (Barcelona). A control group of 137 non-affected in-dividuals was tested. Informed consent was obtained from allsubjects who participated in the study and the research ad-hered to the tenets of the Declaration of Helsinki." @default.
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• W31815539 date "2007-06-28" @default.
• W31815539 modified "2023-10-17" @default.
• W31815539 title "High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population." @default.
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