Living with Anterior segment dysgenesis
A group of rare eye conditions affecting the front of the eye, such as the cornea, iris, and lens.
Understanding Anterior segment dysgenesis
The eye problems depend on the type and the genes involved. They can include a thin or underdeveloped iris, a cloudy cornea, off-center or multiple pupils, and lens problems such as cataract. Glaucoma (high pressure in the eye) develops in around 60% of people. Some types also link to brain or nerve problems. It is noticed in newborns.
Signs & symptoms
GARD doesn't list a symptom list for this condition, but its summary describes these possible eye issues:
- Thin or underdeveloped iris
- Larger or smaller cornea
- Cloudy cornea with extra blood vessels
- Off-center or multiple pupils
- Lens out of place, missing, or cloudy (cataract)
- Glaucoma (high pressure in the eye)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Foundation Fighting Blindness may keep lists of experts for this condition.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Foundation Fighting Blindness
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Foundation Fighting Blindness and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in several different genes can cause this condition, and it can run in families. It can be inherited in an autosomal dominant way, meaning one changed copy of a gene can be enough.
Also known as: anterior chamber cleavage defect; anterior chamber cleavage disorder; anterior chamber malformation; anterior chamber mesodermal anomalies; anterior segment developmental abnormality; anterior segment developmental anomaly
Patient organizations
- Foundation Fighting BlindnessAnterior segment dysgenesis · United States
- The Vision of Children FoundationAnterior segment dysgenesis · United States
You are more than your diagnosis
Perspectives from people navigating life with Anterior segment dysgenesis.
Explore research for Anterior segment dysgenesis
Explore actively recruiting Anterior segment dysgenesis studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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