Living with Aniridia-ptosis-intellectual disability-familial obesity syndrome
An extremely rare syndrome described in one family, with eye differences, intellectual disability, and obesity.
Understanding Aniridia-ptosis-intellectual disability-familial obesity syndrome
It combines eye differences with other body features. The eye differences include a partly or fully missing iris, drooping eyelids, shaky eye movements, clouded lenses, and low sharpness of vision. The two children had intellectual disability and obesity. The mother had hair loss, heart differences, and frequent miscarriages. GARD says there have been no further descriptions since 1986.
Signs & symptoms
Symptoms vary. GARD lists these among the most common:
- Missing or small iris
- Drooping upper eyelid (ptosis)
- Nearsightedness (myopia)
- Cloudy cornea
- Intellectual disability
- Reduced vision
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 brain and nervous system 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
- Brain and nervous system specialists (neurologists); 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 Aniridia Foundation International
- 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 lists autosomal dominant inheritance, so a changed copy of a gene from one parent can be enough. It doesn't name a gene.
Also known as: aniridia, ptosis, intellectual disability, familial obesity syndrome
Patient organizations
- Aniridia Foundation InternationalAniridia-ptosis-intellectual disability-familial obesity syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Aniridia-ptosis-intellectual disability-familial obesity syndrome.
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