Living with Isolated congenital megalocornea
An inherited eye condition in which the corneas are enlarged from birth, sometimes with mild nearsightedness and light sensitivity.
Understanding Isolated congenital megalocornea
At birth, the corneas are thin and enlarged. People may have mild nearsightedness, light sensitivity, or a trembling iris. Cataracts may develop in adulthood. Other possible problems include other corneal changes, a shifted lens, and breakdown of the iris. Diagnosis is made by an eye exam and confirmed by DNA testing.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged cornea (megalocornea)
- Less clear vision
- Mild nearsightedness
- Light sensitivity
- Ring around the edge of the cornea (corneal arcus)
- Light showing through the iris
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 CHRDL1 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
It happens when the CHRDL1 gene is not working correctly. It is inherited in an X-linked recessive pattern.
Also known as: congenital anterior megalophthalmia; megalocornea 1, x-linked, x-linked recessive; mgc1
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 Isolated congenital megalocornea.
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