Living with Choroideremia-deafness-obesity syndrome
An X-linked condition that affects the eyes, hearing, growth, and learning, mainly in males.
Understanding Choroideremia-deafness-obesity syndrome
In males, night vision problems worsen and lead to central blindness. People also have obesity, moderate intellectual disability, and hearing loss from birth involving both inner and middle ear. Female carriers show typical retina changes. GARD lists onset in the newborn period and infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loss of retinal tissue (chorioretinal atrophy)
- Hearing loss in both ears
- Reduced sharpness of vision
- Delayed development
- Slow growth
- Poor balance when walking (gait ataxia)
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, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in POU3F4 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); Hormone specialists (endocrinologists)
- 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 changes in the POU3F4 gene cause this condition. It is X-linked, which means the gene is on the X chromosome.
Also known as: ayazi syndrome; choroideremia deafness obesity; choroideremia, obesity, and congenital deafness; chromosome xq21 deletion syndrome; del(x)(q21); monosomy xq21
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 Choroideremia-deafness-obesity syndrome.
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