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V. B. Mahajan, S. R. Russell, E. M. Stone; A New Macular Dystrophy With Pigment Spots, Cystic Spaces, and Hemorrhage. Invest. Ophthalmol. Vis. Sci. 2009;50(13):6264.
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To clinically phenotype an inherited macular dystrophy with peculiar intra-retinal pigment spots, cysts, and hemorrhage in a 24 year-old female proband and her family.
Extended family members of the proband underwent dilated fundus examination, optical coherence tomography, and in selected cases, fluorescein angiography, and electroretinography.
Seventeen family members, representing three-generations and ranging in age from 5 to 63 years, were clinically examined. Visual acuities ranged from 20/25 to 20/200. Amblyopia and strabismus were frequently present in affected individuals. Consistent with an autosomal dominant pattern of inheritance, seven family members had multiple central macular cystic spaces and flat, round, densely pigmented spots within the retina. There were right angle vessels and telangiectasias in the central macula. Two subjects showed evidence of active retinal hemorrhage and leakage on fluorescein angiography, which was responsive to either focal laser or a single injection of bevacizumab. In those cases examined, the multifocal electroretinography revealed a diminished foveal response.
Spotted cystic hemorrhagic macular dystrophy appears to represent a new autosomal dominant retinal dystrophy. Since these patients are at risk for choroidal neovascularization, identification of the responsible gene may provide insight into the mechanisms of pathologic neovascularization.
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