Living with Corneal dystrophy-perceptive deafness syndrome
A rare genetic condition with cloudy corneas from birth and hearing loss that worsens over time.
Understanding Corneal dystrophy-perceptive deafness syndrome
The corneal problem is called congenital hereditary endothelial dystrophy (CHED). The hearing loss is sensorineural, meaning it involves the inner ear or its nerve, and it starts after speech has developed (postlingual). It is present from birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cloudy cornea (corneal dystrophy)
- Vision problems
- Hearing loss from the inner ear
- Involuntary eye movements (nystagmus)
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 ear, nose, and throat specialists, 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
- Ear, nose, and throat specialists (otolaryngologists); 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
It is caused by changes in the SLC4A11 gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cdpd; congenital hereditary endothelial dystrophy and perceptive deafness syndrome; corneal dystrophy and perceptive deafness syndrome; corneal dystrophy and sensorineural deafness; corneal dystrophy with progressive deafness; corneal dystrophy with progressive hearing loss
Patient organizations
- Corneal Dystrophy FoundationCorneal dystrophy-perceptive deafness syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Corneal dystrophy-perceptive deafness syndrome.
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