Mevalonate kinase deficiency
Oct. 17, 2023
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Gyrate atrophy in 9-year-old child (funduscopy)
Gyrate atrophy is characterized by sharply demarcated, circular areas of chorioretinal degeneration in the midperiphery of the ocular fundus with increased pigmentation around the margins of these lesions. These lesions start as punctuate yellowish dots, which gradually enlarge to circular areas, coalesce, and extend towards the posterior pole of the fundus. (Courtesy of Dr. P Mueller, Children’s Hospital Leisnig, Germany.)