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.
Poulter JA, Al-Araimi M, Conte I, van Genderen MM, Sheridan E, Carr IM, Parry DA, Shires M, Carrella S, Bradbury J, Khan K, Lakeman P, Sergouniotis PI, Webster AR, Moore AT, Pal B, Mohamed MD, Venkataramana A, Ramprasad V, Shetty R, Saktivel M, Kumaramanickavel G, Tan A, Mackey DA, Hewitt AW, Banfi S, Ali M, Inglehearn CF, Toomes C
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Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.
Mayer AK, Mahajnah M, Thomas MG, Cohen Y, Habib A, Schulze M, Maconachie GDE, AlMoallem B, De Baere E, Lorenz B, Traboulsi EI, Kohl S, Azem A, Bauer P, Gottlob I, Sharkia R, Wissinger B
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Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus.
