Familial benign fleck retina (FRFB) is an autosomal recessive condition associated with a distinctive retinal appearance. Affected individuals are asymptomatic, but fundus examination reveals a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but sparing the foveal region. Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause FRFB.
Sergouniotis PI, Davidson AE, Mackay DS, Lenassi E, Li Z, Robson AG, Yang X, Kam JH, Isaacs TW, Holder GE, Jeffery G, Beck JA, Moore AT, Plagnol V, Webster AR
タイトル
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.
