National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Anterior segment dysgenesis


Other Names:
Anterior segment ocular dysgenesis; ASOD; ASMD; Anterior segment ocular dysgenesis; ASOD; ASMD; Familial ocular anterior segment mesenchymal dysgenesis; Anterior segment developmental anomaly; FOXE3-related ocular disorder; Anterior segment mesenchymal dysgenesis See More
Categories:
This disease is grouped under:
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.[1][2][3] Glaucoma develops in approximately 60% of people with ASD, during infancy or much later.[4] Specific eye signs and symptoms of ASD may include:[1][2][3][5]
  • Underdevelopment of the iris (iris hypoplasia).
  • An enlarged or reduced cornea diameter.
  • Growth of new blood vessels (vascularization) and opacity in the cornea.
  • Posterior embryotoxon (a thickened and displaced Schwalbe's line).
  • Corectopia (displacement of the pupil).
  • Polycoria (more than one pupillary opening).
  • An abnormal iridocorneal angle (the angle formed by the iris and cornea).
  • Ectopia lentis (displacement of the lens).
  • Aphakia (absent lens).
  • Cataracts.
  • Anterior synechiae (when the iris adheres to the cornea).
  • Posterior keratoconus (thinning of the cornea).

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.[4]

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.[2][5]

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.
Last updated: 2/21/2018

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 34 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Aplasia/Hypoplasia of the iris
Absent/small iris
Absent/underdeveloped iris
[ more ] 		0008053
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
30%-79% of people have these symptoms
Corneal erosion
Damage to outer layer of the cornea of the eye
0200020
Corneal neovascularization
New blood vessel formation in cornea
0011496
Ectopia lentis 0001083
Glaucoma 0000501
Keratoconjunctivitis sicca
Dry eyes
0001097
Macular hypopigmentation 0007988
Macular hypoplasia 0001104
Opacification of the corneal stroma 0007759
Optic nerve hypoplasia 0000609
Photophobia
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ] 		0000613
Ptosis
Drooping upper eyelid
0000508
Short palpebral fissure
Short opening between the eyelids
0012745
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
5%-29% of people have these symptoms
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] 		0000164
Abnormality of the genital system
Genital abnormalities
Genital abnormality
Genital anomalies
Genital defects
[ more ] 		0000078
Abnormality of the hypothalamus-pituitary axis 0000864
Abnormality of the sense of smell
Abnormal sense of smell
Smell defect
[ more ] 		0004408
Aplasia/Hypoplasia of the corpus callosum 0007370
Global developmental delay 0001263
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Iris hypopigmentation
Light eye color
0007730
Keratoconus
Bulging cornea
0000563
Microcornea
Cornea of eye less than 10mm in diameter
0000482
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Optic nerve coloboma 0000588
Sensorineural hearing impairment 0000407
Umbilical hernia 0001537
1%-4% of people have these symptoms
Ocular anterior segment dysgenesis 0007700
Posterior polar cataract 0001115
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Ocular hypertension
High eye pressure
0007906
Peters anomaly 0000659
Showing of 34 |
Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Anterior segment dysgenesis. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Anterior Segment Dysgenesis. American Academy of Ophthalmology. https://www.aao.org/bcscsnippetdetail.aspx?id=42ca606e-d460-4bd1-91e7-6b1929600ab0. Accessed 2/22/2018.
  2. Bocchini CA. ANTERIOR SEGMENT DYSGENESIS 1; ASGD1. OMIM. January 26, 2017; http://www.omim.org/entry/107250.
  3. Bocchini CA. ANTERIOR SEGMENT DYSGENESIS 3; ASGD3. OMIM. January 26, 2017; http://www.omim.org/clinicalSynopsis/601631.
  4. Olitsky SE, Reynolds JD. Overview of glaucoma in infants and children. UpToDate. Waltham, MA: UpToDate; October 18, 2017; https://www.uptodate.com/contents/overview-of-glaucoma-in-infants-and-children.
  5. Bocchini CA. ANTERIOR SEGMENT DYSGENESIS 2; ASGD2. OMIM. January 26, 2017; 610256.