Living with Microcornea-myopic chorioretinal atrophy
A rare inherited eye condition that starts in childhood with nearsightedness, small corneas, and thinning in the back of the eye.
Understanding Microcornea-myopic chorioretinal atrophy
People have mild to severe nearsightedness (myopia), small corneas (microcornea), and thinning of the layers at the back of the eye (chorioretinal atrophy). Eyes are often set wide apart (telecanthus), and the ears may be rotated toward the back of the head. Other features can vary and may include early cataracts and retinal detachment.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Nearsightedness (myopia)
- Small corneas (microcornea)
- Thinning at the back of the eye (chorioretinal atrophy)
- Eyes set widely apart (telecanthus)
- Ears rotated toward the back of the head
- Broad nasal tip
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 ADAMTS18 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
This condition is caused by changes in the ADAMTS18 gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: microcornea-myopic chorioretinal atrophy-telecanthus syndrome; microcornea, myopic chorioretinal atrophy, and telecanthus; mmcat syndrome
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 Microcornea-myopic chorioretinal atrophy.
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