Background: Adult-onset foveomacular vitelliform dystrophy AOFVD is a condition that presents classically as bilateral, symmetrical, grayish-yellow, round or oval-shaped lesions within the macular area. These lesions are mildly elevated and are typically one third to one half disc diameter in size. The onset of the disease is usually between 30 and 50 years of age with variable genetic inheritance, although some have suggested an autosomal dominance inheritance pattern. Results of diagnostic testing show a normal or mildly subnormal electro-oculogram EOG. Fluorescein angiography results FA typically show hypofluorescence in the area corresponding to the vitelliform lesion and a surrounding ring of hyperfluorescence.
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Macular Dystrophy: How This Rare Eye Disease Causes Blindness
Macular dystrophy, vitelliform, adult-onset - Conditions - GTR - NCBI
We studied the clinical and histopathologic characteristics of the eyes obtained after death from a patient with adult-onset foveomacular pigment epithelial dystrophy. The pigmentation seen in the central fovea corresponded histologically to a hyperplastic clump of retinal pigment epithelium. The pale yellow rim surrounding the central pigmentation corresponded histologically to dense periodic acid-Schiff-positive material underlying thinned, atrophic retinal pigment epithelium. Fluorescence microscopy demonstrated homogeneous autofluorescence in the retinal pigment epithelium that was similar in intensity to that of an age-matched control. The results of this clinicopathologic study suggest that in adult-onset foveomacular pigment epithelial dystrophy, an alteration of macular retinal pigment epithelium causes an accumulation of abnormal subretinal pigment epithelial material, photoreceptor degeneration, and serous retinal detachment.
Macular dystrophy, vitelliform, adult-onset
Adult-onset vitelliform maculopathy initially presents in adulthood as bilateral subtle and often asymptomatic macular lesions, which are often misdiagnosed as early age-related macular degeneration AMD. Although the prognosis is generally good with this condition, in some cases, retinal findings may progress to visually debilitating and blinding retinal pigment epithelium RPE disruption. So, in advanced cases, standard of care management should include a referral to a low vision specialist, who can improve visual function and increase quality of life for affected patients. A large, well-demarcated vitelliform lesion with underlying cuticular drusen was visible, along with sub- and intra-retinal pigment epithelium fluid accumulation, in the right eye.
Pattern dystrophy PD of the retinal pigment epithelium RPE refers to a heterogeneous group of dominantly inherited macular diseases characterized by the development of a variety of patterns of deposits of the yellow, orange, or gray pigment in the macular area Figure 1. Furthermore, one form of PD can evolve into another within a single patient, and the type of PD may even be different between the two eyes of a patient. Figure 1. Red-free fundus photos of the right A and the left B eye in a patient with butterfly-shaped pattern dystrophy, complicated by a choroidal neovascular membrane in the right eye.