Living with Congenital primary aphakia
A rare eye condition present at birth in which the eye's lens is missing.
Understanding Congenital primary aphakia
In some cases it occurs with other eye differences, such as a small eye (microphthalmia), a missing iris, or a cornea that blends with the white of the eye (sclerocornea). It is thought to start during the 4th or 5th week of development before birth, when no lens forms.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing lens (aphakia)
- Vision problems
- Small eye (microphthalmia)
- Glaucoma from early life
- Retinal detachment
- Cornea blending with the white of 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.
- 3Consider genetic testing
Changes in FOXE3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
Changes in the FOXE3 gene have been linked to this condition. It is thought to be autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: anterior segment dysgenesis 2; anterior segment dysgenesis 2, multiple subtypes; aphakia, congenital primary; congenital absence of lens; congenital aphakia
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital primary aphakia.
Explore research for Congenital primary aphakia
Explore actively recruiting Congenital primary aphakia studies with HealthSpark.
Find actively recruiting studies for Congenital primary aphakia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- 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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