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Although vitelliform macular dystrophy causes a deposit of yellowishmaterial in the central macula in young patients, later in the disease itis common to see a partial or almost complete resorption of the yellowishmaterial. The electro-oculogram shows generalized abnormalities, secondaryto mutation of the chloride channel protein, bestrophin.1 Histopathologicanalysis of vitelliform macular dystrophy demonstrates widespread accumulationof lipofuscin in retinal pigment epithelial cells across the fundus.2 Lipofuscin is autofluorescent, and the intensityof fundus autofluorescence parallels the amount and distribution of lipofuscin.
In 3 patients with later stages of vitelliform macular dystrophy, weobtained autofluorescence photographs and found that the general level ofautofluorescence appears more striking3 andwidespread than what the ophthalmoscopic pictures would suggest. However,we also found 2 general patterns of autofluorescence in the posterior pole.The first patient had a spokelike pattern (Figure 1) and the second patient a diffuse pattern (Figure 2). A combination of these 2 patterns occurred in the thirdpatient (Figure 3).
Patient 1. A, Fundus photographshowing resorption of the yellowish lesion with a subretinal scar in the inferiormacula. B, Corresponding autofluorescence photograph showing a spokelike patternof autofluorescence.
Patient 2. A, Fundus photographshowing discrete spots of yellowish deposit. B, Corresponding autofluorescencephotograph showing a diffuse pattern of autofluorescence.
Patient 3. A, Fundus photographshowing multiple drusenoid deposits of vitelliform material. B, Correspondingautofluorescence photograph showing a combination of spokelike and diffusepatterns of autofluorescence.
Vitelliform macular dystrophy is an abnormality caused by a mutationin the bestrophin gene, which affects all retinal pigment epithelial cells,and thus is not limited, as the name suggests, to the macula. Early in thedisease process the principal buildup of lipofuscin occurs in the macularregion, but the autofluorescence photographs from our 3 patients show thatlipofuscin accumulation also occurs later in the disease, often in a fractalpattern, extending toward the periphery in vitelliform macular dystrophy.
Correspondence: Dr Spaide, Vitreous-Retina-Macula Consultants ofNew York, 519 E 72nd St, Suite 203, New York, NY 10021 (vrmny@aol.com).
The authors have no relevant financial interest in this article.
Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature
Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal
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