Living with Cochleosaccular degeneration-cataract syndrome
A very rare inherited condition with hearing loss that worsens over time and cataracts, starting in adulthood.
Understanding Cochleosaccular degeneration-cataract syndrome
The hearing loss comes from severe degeneration of parts of the inner ear (the cochlea and saccule). It has been reported in two families. GARD lists onset in adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss that worsens over time
- Cataract (clouding of the eye lens)
- Degeneration of the cochlea
- Poor balance (ataxia)
- Seizures, less often
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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 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 says it is passed on in an autosomal dominant way, so one changed copy of a gene can be enough. It doesn't name a gene.
Also known as: cochleosaccular degeneration and cataract syndrome; cochleosaccular degeneration with progressive cataract; cochleosaccular degeneration with progressive cataracts
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 Cochleosaccular degeneration-cataract syndrome.
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