1. Clinical manifestations of macular dystrophy and degeneration
Clinical manifestations of macular dystrophy and degeneration. A, Best disease. The right macula of a 12-year-old boy with a typical “egg yolk” accumulation. Corrected visual acuity is 20/30. Note the normal optic disc, retinal vasculature, and surrounding pigment epithelium. B, Doyne honeycomb dystrophy. The left macula of a 45-year-old woman of Swiss-German ancestry who first noted visual distortion at age 27 years. Corrected visual acuity is 20/100. Note the densely packed drusen-like bodies centrally with associated pigment disruption, surrounded by tiny drusen in a radial array. C, Sorsby fundus dystrophy. The left macula of a 39-year-old engineer with end-stage disciform macular scarring that began at age 36 years. Two sisters, his mother, and his maternal grandmother each developed disciform macular degeneration before age 40 years. D, Stargardt disease/Fundus Flavimaculatus. The right fundus of a 17-year-old female with slowly progressive loss of central vision over 4 years, now 20/100 in each eye. Note the slight temporal pallor of the optic disc, the fine, sandy atrophy of the pigment epithelium in the fovea, and a myriad of flecks, some circular, some coalescent in short chains inside and just outside the major vascular arcade. E, Age-Related Maculopathy. Geography atrophy: The left macula of a 68-year-old shows a sharply marginated thinning of the retinal pigment epithelium, enhancing visualization of the large choroidal vessels and the deeper sclera. F, Age-Related Maculopathy. Disciform degeneration: The left macula of a 72-year-old with a healed white “fibrous” central scar in the shape of a “disc” under the retina. See Color Plate 21.
Source: Inherited Macular Dystrophies and Susceptibility to Degeneration, The Online Metabolic and Molecular Bases of Inherited Disease
Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: Accessed: November 14, 2017
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