Living with Foveal hypoplasia-presenile cataract syndrome
A rare genetic eye condition with shaking eye movements from birth, an underdeveloped center of the retina, and early cataracts.
Understanding Foveal hypoplasia-presenile cataract syndrome
The shaking eye movements (nystagmus) are there from birth. Cataracts usually start in the second or third decade of life. The colored part of the eye (iris) looks normal. Corneal changes and optic nerve underdevelopment may also be present.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Shaking eye movements (nystagmus)
- Cataracts at a young age
- Underdeveloped fovea
- Reduced vision
- Crossed eyes (strabismus)
- Optic nerve damage (optic atrophy)
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.
- 3Consider genetic testing
Changes in PAX6 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
- 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
Changes in the PAX6 gene cause it. It is autosomal dominant, which means one changed copy of the gene is enough.
Also known as: foveal hypoplasia with presenile cataract syndrome; o'donnell pappas syndrome; o'donnell-pappas syndrome
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 Foveal hypoplasia-presenile cataract syndrome.
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