Living with Aniridia-absent patella syndrome
A rare syndrome described in one family, with a missing iris in the eye and missing or small kneecaps.
Understanding Aniridia-absent patella syndrome
It was described in three members of one family: a boy, his father, and his paternal grandmother. The grandmother also had cataracts and glaucoma in both eyes. GARD says there have been no further descriptions in the literature since 1975.
Signs & symptoms
Symptoms vary. GARD lists these among the most common:
- Missing iris (aniridia)
- Missing or small kneecaps
- Cataract
- Glaucoma
- Drooping upper eyelid (ptosis)
- Low muscle tone (hypotonia)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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 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 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 and absent patella; aniridia and absent patella syndrome; familial syndrome of aniridia and absence of the patella
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 Aniridia-absent patella syndrome.
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