Living with Lens coloboma
A rare inherited eye condition in which the lens has a notch, which can lower vision.
Understanding Lens coloboma
It can affect one or both eyes and typically shows as reduced sharpness of vision. Other eye differences, such as colobomas of the iris, choroid, or optic disc, cataracts, and retinal detachment, may also occur.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary mentions reduced sharpness of vision.
- Reduced sharpness of vision (visual acuity)
- Notched lens shape
- Clouding of the lens (cataract)
- Retinal detachment
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.
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 is caused by changes in genes. GARD does not name a specific gene or inheritance pattern.
Also known as: coloboma of eye lens; coloboma of lens
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 Lens coloboma.
Explore research for Lens coloboma
Explore actively recruiting Lens coloboma studies with HealthSpark.
Find actively recruiting studies for Lens coloboma 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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