Best's vitelliform macular dystrophy with pseudohypopyon: an optical coherence tomography study

Men, Gamze; Batıoğlu, Figen; Ozkan, Seyhan Sonar; Atilla, Hüban; Özdamar, Yasemin; Aslan, Özlem

doi:10.1016/j.ajo.2003.11.014

Cited by 20 publications

(13 citation statements)

References 5 publications

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“…Type 2 lesions appeared as small, linear, hyper-reflective deposits at the level of the ONL and well differentiated visibly from the RPE layer (figs 2-4). This location is unusual in the field of inherited macular dystrophies distinct from lesions observed in AFVD, 18 Best macular dystrophy, 19 or malattia leventinese, 20 localised at the level of RPE We believe that this unusual location could contribute to the positive diagnosis in some cases of retinal flecks in STGD/FFM. Several lines of evidence suggest that the two types of retinal flecks merely reflect different stages of the same disorder.…”

Section: Discussionmentioning

confidence: 68%

Analysis of retinal flecks in fundus flavimaculatus using optical coherence tomography

Querques

Leveziel²,

Benhamou³

et al. 2006

British Journal of Ophthalmology

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Background/aim: Retinal flecks are commonly observed in both Stargardt disease and fundus flavimaculatus (FFM). The aim was to determine the precise localisation of these flecks within the retinal layers using Stratus optical coherence tomography (OCT). Methods: A prospective observational case series. A complete ophthalmological examination, including autofluorescence, fluorescein angiography (FA), and Stratus OCT (Carl Zeiss) was performed in 49 eyes of 26 consecutive patients with FFM. Six to 12 Stratus OCT linear scans focused on the retinal flecks were performed in each eye. Results: The age at presentation ranged from 23 years to 71 years and visual acuity ranged from 20/20 to 20/400. Hyper-reflective deposits classified into two types were observed on Stratus OCT: type 1 lesions (94% of eyes) presented as dome-shaped deposits located in the inner part of the retinal pigment epithelium (RPE) layer and type 2 lesions (86% of eyes) presented as small linear deposits located at the level of the outer nuclear layer and clearly separated from the RPE layer. Conclusions: Stratus OCT is a non-invasive instrument that provides new information on the location of flecks in FFM. The location of type 2 lesions is quite unusual among macular dystrophies; OCT may therefore be useful in the diagnosis of retinal flecks in some cases of FFM.

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Section: Discussionmentioning

confidence: 68%

Analysis of retinal flecks in fundus flavimaculatus using optical coherence tomography

Querques

Leveziel²,

Benhamou³

et al. 2006

British Journal of Ophthalmology

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“…When mutated, lipofuscin and degenerating RPE cells accumulate, causing the abnormalities of the ORCC seen on OCT. 18,19 In our patient II:2, OCT showed a cystic macular edema, which is a finding that does not seem to relate directly to the postulated function of the protein, but could represent a secondary retinal reaction in the presence of deranged RPE-photoreceptor interaction.…”

Section: Discussionmentioning

confidence: 80%

Variant Phenotype of Best Vitelliform Macular Dystrophy Associated with Compound Heterozygous Mutations inVMD2

Schatz

Klar

Andréasson

et al. 2006

Ophthalmic Genetics

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“…The deposits initially resemble an egg yolk (vitelliform). The lesion then often passes through a pseudohypopyon stage that is often accompanied by detachment of the neural retina from the RPE (86,129,160,161,201). With age, the deposits become disorganized (the vitelleruptive stage) and the RPE/choroid layer becomes thickened partly as a consequence of pigment accumulation in the RPE layer (160,161).…”

Section: A Best Vitelliform Macular Dystrophymentioning

confidence: 97%

“…10). Evidence supporting the idea that fluid transport is disrupted in BVMD is provided by the observation that detachment of the neural retina from the RPE is a common feature of the pseudohypopyon stage of BVMD (86,129,160,161,201).…”

Section: Hypothetical Mechanisms Of Bvmdmentioning

confidence: 97%

Molecular Physiology of Bestrophins: Multifunctional Membrane Proteins Linked to Best Disease and Other Retinopathies

Hartzell¹,

Qu²,

Yu³

et al. 2008

Physiological Reviews

305

393

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This article reviews the current state of knowledge about the bestrophins, a newly identified family of proteins that can function both as Cl(-) channels and as regulators of voltage-gated Ca(2+) channels. The founding member, human bestrophin-1 (hBest1), was identified as the gene responsible for a dominantly inherited, juvenile-onset form of macular degeneration called Best vitelliform macular dystrophy. Mutations in hBest1 have also been associated with a small fraction of adult-onset macular dystrophies. It is proposed that dysfunction of bestrophin results in abnormal fluid and ion transport by the retinal pigment epithelium, resulting in a weakened interface between the retinal pigment epithelium and photoreceptors. There is compelling evidence that bestrophins are Cl(-) channels, but bestrophins remain enigmatic because it is not clear that the Cl(-) channel function can explain Best disease. In addition to functioning as a Cl(-) channel, hBest1 also is able to regulate voltage-gated Ca(2+) channels. Some bestrophins are activated by increases in intracellular Ca(2+) concentration, but whether bestrophins are the molecular counterpart of Ca(2+)-activated Cl(-) channels remains in doubt. Bestrophins are also regulated by cell volume and may be a member of the volume-regulated anion channel family.

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Best's vitelliform macular dystrophy with pseudohypopyon: an optical coherence tomography study

Cited by 20 publications

References 5 publications

Analysis of retinal flecks in fundus flavimaculatus using optical coherence tomography

Analysis of retinal flecks in fundus flavimaculatus using optical coherence tomography

Variant Phenotype of Best Vitelliform Macular Dystrophy Associated with Compound Heterozygous Mutations inVMD2

Molecular Physiology of Bestrophins: Multifunctional Membrane Proteins Linked to Best Disease and Other Retinopathies

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