Foveal Hypoplasia, Optic Nerve Decussation Defect and Anterior Segment Dysgenesis (FHONDA)
Autoszomális recesszív
Caused by changes in both copies of SLC38A8, which encodes a putative glutamine transporter in the retina. The eye findings can resemble albinism, but skin and hair colour are normal.
Tünetek és jelek
Reduced vision with nystagmus (involuntary eye movements), caused by an underdeveloped fovea and misrouting of optic nerve fibres at the optic chiasm. Some people have abnormalities of the front of the eye (anterior segment dysgenesis).
Mit változtat a diagnózis
Regular eye examinations, correction of refractive error and low-vision support help make the most of vision. Both parents of an affected child are usually carriers, so each further child has a 1 in 4 chance of being affected; genetic counselling and carrier testing of relatives are available.
Vizsgált gének
Más néven
FHONDA syndrome; foveal hypoplasia 2; foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis; foveal hypoplasia type 2; FVH2
