Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene

Felbor, Ute; Schilling, Hannah; Weber, Bernhard H. F.

doi:10.1002/(sici)1098-1004(1997)10:4<301::aid-humu6>3.0.co;2-j

Cited by 107 publications

(35 citation statements)

References 32 publications

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“…AVMD has been shown previously to constitute a heterogeneous group of disorders, caused in approximately 18% of cases by peripherin/RDS mutations. 27,28 We now provide additional evidence for genetic heterogeneity by identifying four different VMD2 mutations in eight of the 32 individuals (25%) studied. In all these probands peripherin/RDS was excluded as the disease-causing gene prior to the mutation analysis in the VMD2 gene.…”

Section: Discussionsupporting

confidence: 86%

“…21,22,26 Mutations in the peripherin/RDS gene have been found in a small proportion of cases suggesting that AVMD is a genetically heterogeneous phenotype. 27,28 Best disease and AVMD also share some important phenotypic features with age-related macular degeneration (AMD), the leading cause of visual deterioration in the elderly population of industrialised countries. 29,30 Clinically, AMD is characterised by druse, abnormal deposits of extracellular material on the inner layers of Bruch's membrane and beneath the RPE, as well as pigment changes, atrophy of the RPE, and choroidal neovascularisation.…”

Section: Introductionmentioning

confidence: 78%

“…All have been screened in a previous study and were found to be negative for mutations in the peripherin/RDS gene. 28 Samples from 200 AMD patients and 140 unaffected controls were included in the study. The AMD group represents the broad clinical spectrum of the disease and contains 100 individuals with geographic atrophy and 100 individuals with exudative AMD of whom 56 have choroidal neovascular membranes and 44 have pigment epithelial detachments (PED).…”

Section: Introductionmentioning

confidence: 99%

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Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

Krämer¹,

White²,

et al. 2000

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Recently, the VMD2 gene has been identified as the causative gene in juvenile-onset vitelliform macular dystrophy (Best disease), a central retinopathy primarily characterised by an impaired function of the retinal pigment epithelium. In this study we have further characterised the spectrum of VMD2 mutations in a series of 41 unrelated Best disease patients. Furthermore we expanded our analysis to include 32 unrelated patients with adult vitelliform macular dystrophy (AVMD) and 200 patients with age-related macular degeneration (AMD). Both AVMD and AMD share some phenotypic features with Best disease such as abnormal subretinal accumulation of lipofuscin material, progressive geographic atrophy and choroidal neovascularisation, and may be the consequence of a common pathogenic mechanism. In total, we have identified 23 distinct disease-associated mutations in Best disease and four different mutations in AVMD. Two of the mutations found in the AVMD patients were also seen in Best disease suggesting a considerable overlap in the aetiology of these two disorders. There were no mutations found in the AMD group. In addition, four frequent intragenic polymorphisms did not reveal allelic association of the VMD2 locus with AMD. These data exclude a direct role of VMD2 in the predisposition to AMD.

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Section: Discussionsupporting

confidence: 86%

Section: Introductionmentioning

confidence: 78%

Section: Introductionmentioning

confidence: 99%

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Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

Krämer¹,

White²,

et al. 2000

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“…For example, mutations in peripherin 2 (RDS) may cause either ADRP or autosomal dominant macular degeneration (Felbor et al 1997), and mutations in usherin (USH2A) may cause either Usher syndrome or non-syndromic ARRP (Rivolta et al 2000).…”

Section: Progress In Identifying Rd Genesmentioning

confidence: 99%

Identifying Retinal Disease Genes: How Far Have We Come, How Far Do We Have to Go?

Daiger

2003

Novartis Foundation Symposia

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“…Unlike VMD, AVMD characteristically manifests from third to fifth decades. [13][14][15] Since its identification, over 120 diseasecausing mutations have been described in the BEST1 gene. 16 The majority of mutations are missense and located in the N-terminal of the gene.…”

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confidence: 92%

Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations

Cohn

Turnbull

Ruddle

et al. 2010

Eye

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Purpose (1) To evaluate the spectrum of BEST1 mutations within Australian Best Disease or vitelliform macular dystrophy (VMD) pedigrees, including any novel mutations; (2) to analyse the range of clinical presentations of this cohort; (3) to determine any possible genotype-phenotype correlations and (4) to compare clinical data of patients with phenotypic VMD, both with and without a BEST1 mutation. Patients and methods Patients with suspected VMD were referred to clinical centres for ophthalmological assessment and genetic screening. When a mutation was identified in a proband, further family members were invited for clinical and genetic screening. Results We identified 42 patients with one of 13 BEST1 mutations. Seven mutations were novel. There were a further 14 probands in whom a BEST1 mutation was not identified. Median visual acuity in both VMD (mutation positive) and clinical VMD (no BEST1 mutation identified) groups reached driving standards (6/12 or better). Conclusion We did not identify any firm genotype-phenotype correlations in our Australian VMD pedigrees, in which there was a spectrum of BEST1 mutations and marked variation in clinical presentation. Genetic screening remains the gold standard for VMD diagnosis. Patients should be counselled that visual acuity might remain at or above driving standards in at least one eye even in the presence of a BEST1 mutation.

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Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene

Cited by 107 publications

References 32 publications

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

Identifying Retinal Disease Genes: How Far Have We Come, How Far Do We Have to Go?

Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations

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