Article

Best's vitelliform dystrophy.

Department of Ophthalmology, University of Iowa, Iowa City 52242.
Ophthalmic paediatrics and genetics (Impact Factor: 1.23). 04/1990; 11(1):49-59.
Source: PubMed

ABSTRACT Best's vitelliform dystrophy is an autosomal dominant disease that pathologically affects the retinal pigment epithelium and symmetrically affects the macula of patients at a very young age. Visual acuity tends to remain quite good for long periods of time. In the later stages of the disease, atrophic changes of the retinal pigment epithelium or scarring secondary to subretinal neovascular membranes with hemorrhage may cause a loss of central visual acuity. An abnormal diminished light to dark ratio of the electrooculogram is the hallmark of the disease. No other significant ocular abnormalities or systemic problems have been associated with this genetic disorder. No therapy exists for halting the progression of the disease with the possible exception of laser photocoagulation treatment used to ablate subretinal neovascular membranes in an attempt to avoid complications of subretinal hemorrhages. However, an accurate diagnosis and pedigree analysis is important for allowing the physician to perform adequate family and genetic counseling to affected patients.

0 Bookmarks
 · 
50 Views
  • [Show abstract] [Hide abstract]
    ABSTRACT: Case reportWe report the case of a child with a sudden loss of vision of the left eye. Ophthalmoscopic examination revealed vitelliform lesions in both foveal centers, as well as an adjacent hemorrhage in his left eye. Fluorescein angiography confirmed the presence of a neovascular membrane in his left eye. The electrooculogram showed disease. According to complementary studies the patient was diagnosed with Best's disease associated with choroidal neovascularization.DiscussionThe diagnosis of Best's vitelliform macular dystrophy is often a casual finding as visual acuity tends to remain stable for long periods of time. A sudden deterioration in vision may suggest complications, such as choroidal neovascularization.
    Archivos de la Sociedad Espanola de Oftalmologia 10/2012; 87(10):333–336.
  • [Show abstract] [Hide abstract]
    ABSTRACT: Case reportWe report the case of a child with a sudden loss of vision of the left eye. Ophthalmoscopic examination revealed vitelliform lesions in both foveal centers, as well as an adjacent hemorrhage in his left eye. Fluorescein angiography confirmed the presence of a neovascular membrane in his left eye. The electrooculogram showed disease. According to complementary studies the patient was diagnosed with Best's disease associated with choroidal neovascularization.DiscussionThe diagnosis of Best's vitelliform macular dystrophy is often a casual finding as visual acuity tends to remain stable for long periods of time. A sudden deterioration in vision may suggest complications, such as choroidal neovascularization.ResumenCaso clínicoSe presenta el caso de un niño con pérdida súbita de visión en ojo izquierdo. El examen funduscópico revela una lesión foveal viteliforme bilateral, y una hemorragia adyacente en ojo izquierdo. La angiografía con fluoresceína confirma la presencia de una membrana neovascular en ojo izquierdo. El electrooculograma resulta patológico. Tras completar el estudio, es diagnosticado de enfermedad de Best asociada a neovascularización coroidea.DiscusiónEl diagnóstico de enfermedad de Best puede ser casual dado que la agudeza visual suele permanecer estable. Una pérdida súbita de visión ha de sugerirnos la aparición de complicaciones tales como neovascularización coroidea.
    Archivos de la Sociedad Española de Oftalmología (English Edition). 10/2012; 87(10):333–336.
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Non-invasive reflectance imaging of the human RPE cell mosaic is demonstrated using a modified confocal adaptive optics scanning light ophthalmoscope (AOSLO). The confocal circular aperture in front of the imaging detector was replaced with a combination of a circular aperture 4 to 16 Airy disks in diameter and an opaque filament, 1 or 3 Airy disks thick. This arrangement reveals the RPE cell mosaic by dramatically attenuating the light backscattered by the photoreceptors. The RPE cell mosaic was visualized in all 7 recruited subjects at multiple retinal locations with varying degrees of contrast and cross-talk from the photoreceptors. Various experimental settings were explored for improving the visualization of the RPE cell boundaries including: pinhole diameter, filament thickness, illumination and imaging pupil apodization, unmatched imaging and illumination focus, wavelength and polarization. None of these offered an obvious path for enhancing image contrast. The demonstrated implementation of dark-field AOSLO imaging using 790 nm light requires low light exposures relative to light safety standards and it is more comfortable for the subject than the traditional autofluorescence RPE imaging with visible light. Both these factors make RPE dark-field imaging appealing for studying mechanisms of eye disease, as well as a clinical tool for screening and monitoring disease progression.
    Biomedical Optics Express 01/2013; 4(9):1710-23. · 3.50 Impact Factor