This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Anterior segment dysgenesis (ASD) refers to a spectrum of disorders that affect the development of the front of the eye (the anterior segment), which includes the cornea, iris, ciliary body, and lens. The specific eye abnormalities (alone or in combination) vary depending on the subtype of ASD and genetic cause, and some types may also be associated with neurological abnormalities. Glaucoma develops in approximately 60% of people with ASD, during infancy or much later. Specific eye signs and symptoms of ASD may include:
Individual disorders within the ASD spectrum include Axenfeld-Rieger syndrome (which includes disorders formerly known as Axenfeld anomaly, Axenfeld syndrome, Rieger anomaly, Rieger syndrome, and iridogoniodysgenesis) and Peters anomaly.
ASD may be caused by mutations in any of several genes and inheritance can be autosomal dominant or autosomal recessive, depending on the responsible gene.
Treatment of signs and symptoms depends on the specific features in each person with ASD and may involve medications, eye surgery, or corrective lenses for poor vision.
For more information, visit GARD.