Fleck retina, familial benign
Definition:
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.
References:
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[1]. Isabelle Audo, et al. Autofluorescence imaging in a case of benign familial fleck retina. Arch Ophthalmol. 2007 May;125(5):714-5. [Content Brief]
[2]. Panagiotis I Sergouniotis, et al. Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina. Am J Hum Genet. 2011 Dec 9;89(6):782-91. [Content Brief]
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