Paraneoplastic vitelliform retinopathy is a rare condition associated with metastatic melanoma. Like melanomaassociated retinopathy (MAR), it can cause nyctalopia and progressive vision loss; however, unlike MAR, the fundus shows multifocal, yellow-orange vitelliform lesions beneath the neurosensory retina and at the level of the retinal pigment epithelium, as well as areas of subretinal fluid ...

INTRODUCTION To compare mean best-corrected visual acuity (BCVA), retinal sensitivity (RS), and bivariate contour ellipse area (BCEA) in patients with adult-onset foveomacular vitelliform dystrophy (AOFVD) and healthy subjects (HSs), reporting also functional disease-related changes in the different stages of the AOFVD disease. MATERIALS AND METHODS In this observational cross-sectional study...

Control photographs, with the Baird Atomic B4 and B5 filters in place prior to fluorescein injection, show exposure of the film corresponding to (1) the small yellow vitelliform lesions at the edge of a disrupted disc, (2) the pseudohpopyon in a vitelliform cyst, (3) orange lipofuscin overlying a malignant melanoma, and (4) some of the flecks in a case of funds flavimaculatus. Because of transm...

Mutations in the human bestrophin-1 (hBest1) gene are responsible for Best vitelliform macular dystrophy, however the mechanisms leading to retinal degeneration have not yet been determined because the function of the bestrophin protein is not fully understood. Bestrophins have been proposed to comprise a new family of Cl(-) channels that are activated by Ca(2+). While the regulation of bestrop...

performed. Previous cases of vitelliform retinopathy have had some clinical findings consistent with MAR, while others have not. None of these reports had clinical evidence of choroidal involvement. The vitelliform lesions have been postulated to represent a new paraneoplastic clinical manifestation. The pathologic results in this case argue against a paraneoplastic entity but may suggest a loc...

PURPOSE The purpose of this study was to analyze BEST1 gene mutations in Chinese patients with bestrophinopathy and to describe the clinical features of these patients. METHODS Thirteen patients from 12 unrelated Chinese families affected by bestrophinopathy were recruited and clinically evaluated with best-corrected visual acuity examination, slit-lamp biomicroscopy, fundus examination and p...

PURPOSE Mutations in the gene encoding the tissue inhibitor of metalloproteinases-3 (TIMP3) have been shown previously to cause Sorsby's fundus dystrophy, an autosomal-dominant disorder characterized by extracellular matrix irregularities in Bruch's membrane. To assess the involvement of TIMP3 in a variety of other macular dystrophies, the authors have screened this gene for disease-causing mut...

PURPOSE To estimate the prevalence, genotype, and clinical spectrum of Best vitelliform macular dystrophy (Best disease). DESIGN Retrospective epidemiologic and clinical and molecular genetic observational study. METHODS setting: National referral center. participants: Forty-five individuals diagnosed with Best disease. observation procedures: Retrospective review of patients diagnosed acco...

PURPOSE To analyze the spectrum of sequence variants in the BEST1 gene in a group of Italian patients affected by Best vitelliform macular dystrophy (VMD). METHODS Thirty Italian patients with a diagnosis of VMD and 20 clinically healthy relatives were recruited. They belonged to 19 Italian families predominantly originating from central Italy. They received a standard ophthalmologic examinat...

In the November 1995 issue of the Journal, Mansergh et all suggest that there is genetic heterogeneity in the autosomal dominant eye disorder Best's vitelliform macular dystrophy (BMD) previously mapped to 1 1q13 (MIM 153700)."-' They analysed markers from chromosome 11 in two families, BTMD1 of Irish origin and Fam E of German origin. The conclusion was that the gene previously mapped to 11 qi...