Foveal hypoplasia

Definition:

Foveal hypoplasia (FVH) is characterized by absence or abnormal foveomacular reflex, unclear definition of the foveomacular area, and presence of capillaries running abnormally close to the macula. It can be isolated or associated with presenile cataract. The mutations in the PAX6 gene have been described in foveal hypoplasia. Recently, it has been reported that recessive mutations in SLC38A8 cause foveal hypoplasia.

References:

[1]. A Vincent, et al. Variable expressivity of ocular associations of foveal hypoplasia in a family. Eye (Lond). 2009 Aug;23(8):1735-9. [Content Brief]

[2]. I Hanson, et al. Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. Hum Mol Genet. 1999 Feb;8(2):165-72. [Content Brief]

[3]. James A Poulter, et al. Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. Am J Hum Genet. 2013 Dec 5;93(6):1143-50. [Content Brief]

[4]. N Azuma, et al. PAX6 missense mutation in isolated foveal hypoplasia. Nat Genet. 1996 Jun;13(2):141-2. [Content Brief]

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