Foveal hypoplasia, similar to visual pathway misrouting, is a consistent finding in albinism and is characterized by the absence of a foveal pit, as demonstrated by light microscopy and OCT.

Identifying these relationships between genetic defects and the degree of arrested foveal development is the first step in building possible future treatments for individuals with foveal hypoplasia.

More information: Helen J. Kuht et al, Genotypic and Phenotypic Spectrum of Foveal Hypoplasia, Ophthalmology (2022). DOI: 10.1016/j.ophtha.2022.02.010 Journal information: Ophthalmology ...

An international team of health researchers have, for the first time, described how genetic defects influence the spectrum of vision development and cause problems in developing babies’ eyes.

An international team of health researchers have, for the first time, described how genetic defects influence the spectrum of vision development and cause problems in developing babies’ eyes.

Surgery carries the risk of causing a retinal break, with limited prognosis for macular reattachment or vision. Although FEVR can be associated with nystagmus, a future evaluation for albinism will be ...

‘Arrested development of the fovea, or foveal hypoplasia, is rare, and is often caused by genetic changes. ...