Living with Microphthalmia, isolated, with cataract 1
A rare eye condition in which one or both eyes are smaller than usual, sometimes with cataracts or gaps in the eye tissue.
Understanding Microphthalmia, isolated, with cataract 1
One or both eyeballs are smaller than usual (microphthalmia). In very severe cases an eye may appear to be missing, although some eye tissue is usually present. Some people have coloboma (missing pieces of tissue in the eye), cataracts, a narrow eye opening, or small corneas. Vision may or may not be greatly affected. It can occur alone or with other birth differences.
Signs & symptoms
GARD doesn't list a set of most common symptoms for this condition. Its summary describes these eye features:
- One or both eyes smaller than usual (microphthalmia)
- Gaps in eye tissue (coloboma)
- Clouding of the lens (cataracts)
- Narrowed eye opening
- Small corneas (microcornea)
- Vision changes, depending on the eye differences
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
GARD lists this condition as autosomal dominant, which means a changed copy of a gene from one parent can be enough to cause it. GARD does not name the gene in this record.
Also known as: mcopct1
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 Microphthalmia, isolated, with cataract 1.
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