Foveal hypoplasia is a retinal disorder in which there is a lack of full development of the morphology of the fovea. The optical coherence tomography (OCT) and functional findings are presented in relation to the underlying genetic and developmental conditions. Recent advancements of high-resolution OCT imaging have unveiled characteristics of foveal hypoplasia that were not detected by conventional imaging methods. An absence of a foveal pit does not necessarily imply poor visual acuity, and the maturation of the cone photoreceptors is important for the visual acuity. Regardless of the degree of the development of the inner retinal layers, the visual acuity can be preserved as in diseases such as Stickler syndrome that is a newly identified retinal disorder associated with foveal hypoplasia.
Keywords: Achromatopsia; Stickler syndrome; albinism; aniridia; familial exudative vitreoretinopathy; foveal avascular zone; foveal hypoplasia; incontinentia pigmenti; optic nerve hypoplasia; optical coherent tomography; retinopathy of prematurity.