Late Onset is Common in Best Macular Dystrophy Associated with VMD2 Gene Mutations

Renner, Agnes B.; Tillack, H.; Kraus, H; Krämer, Franziska; Mohr, Nicole; Weber, Bernhard H. F.; Foerster, Michael; Kellner, Ulrich

doi:10.1016/j.ophtha.2004.10.041

Cited by 83 publications

(89 citation statements)

References 25 publications

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“…32 In various degenerative retinal disorders, increased FAF correlated with lipofuscin accumulation, whereas reduced or absent FAF indicated blockage (eg, retinal vessels), loss of RPE cells, or absence of RPE phagocytosis. 26,27,[33][34][35][36][37][38][39][40] The patterns of FAF distribution in RP patients observed in this study are similar to those reported previously. Ophthalmoscopically preserved areas of RPE at the posterior pole correspond to detectable FAF.…”

Section: Discussionsupporting

confidence: 87%

“…The diagnosis was established in each patient by one author (UK) based on patient and family history, ophthalmoscopy, visual field testing, and full-field or multifocal electroretinography according to the standards of the International Society for Clinical Electrophysiology of Vision. [25][26][27][28][29] The range of normal FAF and NIA images was evaluated in one eye of 25 healthy subjects aged 12-70 years without ocular disease. These subjects had normal visual acuity for the eye examined and no abnormalities on ophthalmoscopy.…”

Section: Methodsmentioning

confidence: 99%

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Lipofuscin- and melanin-related fundus autofluorescence visualize different retinal pigment epithelial alterations in patients with retinitis pigmentosa

Kellner

Weber

et al. 2008

Eye

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Aims To compare melanin-related nearinfrared fundus autofluorescence (FAF; NIA, excitation 787 nm, emission 4800 nm) with lipofuscin-related FAF (excitation 488 nm, emission 4500 nm) in retinitis pigmentosa (RP). Methods Thirty-three consecutive RP patients with different modes of inheritance were diagnosed clinically, with full-field ERG, and if possible with molecular genetic methods. FAF and NIA imaging were performed with a confocal scanning laser ophthalmoscope (Heidelberg Retina Angiograph 2). Results Rings of increased FAF were present within an area of preserved retinal pigment epithelium (RPE) at the posterior pole (31/33). Rings of increased NIA were located in the same region as rings of increased FAF. In contrast to FAF, NIA showed a precipitous decline of NIA peripheral to the ring. In larger areas of preserved NIA (11/31), pericentral and foveal NIA were of similar intensity with an area of lower NIA in between. In smaller areas of preserved NIA (20/31), NIA was homogeneous from the perifovea to the fovea. In one patient without a ring of increased FAF, NIA distribution was normal. In the remaining patient with severely advanced RP, no residual RPE as well as no FAF and NIA were detectable. Conclusion Characteristic features for FAF and NIA alterations in a heterogeneous group of RP patients indicate a common pathway of RPE degeneration. Patterns of NIA and FAF indicate different pathophysiologic processes involving melanin and lipofuscin. Combined NIA and FAF imaging will provide further insight into the pathogenesis of RP and noninvasive monitoring of future therapeutic interventions.

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Section: Discussionsupporting

confidence: 87%

Section: Methodsmentioning

confidence: 99%

Lipofuscin- and melanin-related fundus autofluorescence visualize different retinal pigment epithelial alterations in patients with retinitis pigmentosa

Kellner

Weber

et al. 2008

Eye

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“…14 The sensory EOG is usually severely abnormal in all BEST1-related diseases, except AFVD, which usually demonstrates normal Arden's ratio. 16 The ERG is usually normal in BVMD 18 and AFVD. 16 ARB is associated with reduced amplitude and delayed implicit times of rod and cone responses.…”

Section: Discussionmentioning

confidence: 99%

BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies

Vincent

McAlister

VandenHoven

et al. 2010

Eye

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“…However, VMD has known disease phenotypic variability and onset may be as late as the fifth decade. 2,[23][24][25][26] Typically, patients present with blurred vision, loss of central acuity or metamorphopsia. 24 The electrophysiological hallmark of VMD is a reduced Arden index on electro-oculogram (EOG).…”

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confidence: 99%

“…29,30 In the absence of genetic testing, the carrier state may often only be identified in VMD by an abnormal EOG; 29 however, some studies have shown the preservation of a normal EOG despite the presence of a BEST1 mutation. 2,16,25,31 Considerable variation in VMD disease expressivity has been observed. 16,26,[32][33][34][35] The funduscopic appearance of VMD varies depending on disease severity and stage.…”

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confidence: 99%

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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Late Onset is Common in Best Macular Dystrophy Associated with VMD2 Gene Mutations

Cited by 83 publications

References 25 publications

Lipofuscin- and melanin-related fundus autofluorescence visualize different retinal pigment epithelial alterations in patients with retinitis pigmentosa

Lipofuscin- and melanin-related fundus autofluorescence visualize different retinal pigment epithelial alterations in patients with retinitis pigmentosa

BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies

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

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