Living with Macular corneal dystrophy
A rare inherited eye condition in which the clear front of the eye becomes cloudy and vision can get much worse.
Understanding Macular corneal dystrophy
It causes hazy, cloudy patches in both eyes. Over time it can cause serious loss of vision. It can start at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cloudy cornea
- Marked vision loss
- Tiny cloudy spots on the cornea
- Thin cornea
- Corneal crystals
- Repeated breakdown of the eye's clear surface (corneal erosions)
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 CHST6 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 Corneal Dystrophy Foundation
- 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 CHST6 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: corneal dystrophy groenouw type ii; fehr corneal dystrophy; groenouw type ii corneal dystrophy; macular corneal dystrophy type i; macular dystrophy, corneal, 1; mcd
Patient organizations
- Corneal Dystrophy FoundationMacular corneal dystrophy · United States
You are more than your diagnosis
Perspectives from people navigating life with Macular corneal dystrophy.
Explore research for Macular corneal dystrophy
Explore actively recruiting Macular corneal dystrophy studies with HealthSpark.
Find actively recruiting studies for Macular corneal dystrophy with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- 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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