Peripherin/RDS and VMD2 mutations in macular dystrophies withadult-onset vitelliform lesion

[摘要] Purpose: Adult-onset vitelliform macular dystrophy (AVMD) is apleomorphic late-onset macular phenotype characterized by a centralyellow deposit between the neural retina and retinal pigment epithelium.Mutations in the genes encoding peripherin/RDS and VMD2 have beenpreviously reported in some subjects with AVMD. The purpose of thisinvestigation was to determine the prevalence of mutations in these twogenes in a cohort of cases with macular dystrophies presenting withvitelliform lesions in adulthood.Methods: Fifty nine consecutively ascertained and unrelated subjectsprospectively coded as pattern or vitelliform macular dystrophies werereviewed and twelve subjects with a vitelliform lesion were identified.Patient evaluation included comprehensive ocular examination, retinalimaging, and functional studies in selected subjects. The RDS and VMD2genes were screened for variation by direct DNA sequencing of codingregions and intron/exon boundaries.Results: Twenty-two DNA sequence variants were identified in thegenes encoding RDS and VMD2. A Pro210Arg variant found in the RDS geneof one subject was the only definite mutation detected in either gene.Conclusions: The Pro210Arg mutation has been reported previously inpatients with pattern dystrophy confirming the observation that patterndystrophy can present with an AVMD phenotype. Although RDS and VMD2 arethe only known genes with mutations contributing to AVMD, our seriesdemonstrates that most patients have mutations in genes that have yet tobe discovered.

[学科分类] 生物化学/生物物理