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Best's vitelliform dystrophy
Journal article

Best's vitelliform dystrophy

C F Blodi and E M Stone
Ophthalmic paediatrics and genetics, Vol.11(1), pp.49-59
03/1990
PMID: 2190134

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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.
Electrooculography Prognosis Retinal Hemorrhage - etiology Humans Macular Degeneration - complications Visual Acuity Retinal Neovascularization - etiology Macular Degeneration - diagnosis Macular Degeneration - genetics Pigment Epithelium of Eye - pathology Fundus Oculi Fluorescein Angiography Genetic Linkage Macular Degeneration - pathology

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