Living with Congenital hereditary endothelial dystrophy of cornea
An inherited eye condition from birth with cloudy, thickened corneas, blurred vision and shaky eye movements.
Understanding Congenital hereditary endothelial dystrophy of cornea
The corneas have a diffuse ground-glass look and are markedly thickened from birth. It comes with shaky eye movements (nystagmus) and blurred vision. It is seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Blurred vision
- Cloudy cornea
- Thickened cornea
- Swelling of the cornea
- Reduced sharpness of vision
- Shaky eye movements (nystagmus), in some
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 SLC4A11 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 SLC4A11 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: autosomal recessive ched; autosomal recessive congenital hereditary endothelial dystrophy; ched; ched ii - congenital hereditary endothelial dystrophy ii; ched2; chedii
Patient organizations
- Corneal Dystrophy FoundationCongenital hereditary endothelial dystrophy of cornea · United States
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Perspectives from people navigating life with Congenital hereditary endothelial dystrophy of cornea.
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