Living with Ocular albinism
A genetic eye condition with less color in the iris and retina, causing poor sharpness of vision that doesn't worsen over time.
Understanding Ocular albinism
Vision is severely less sharp and depth perception is affected. The vision loss is permanent but doesn't get worse over time. Other eye features include quick involuntary eye movements (nystagmus), eyes that don't line up (strabismus), and light sensitivity. Skin and hair color are not much affected. The most common form is the Nettleship-Falls type, or type 1.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, features may include:
- Less sharp vision
- Trouble with depth perception
- Quick, involuntary eye movements (nystagmus)
- Eyes that don't look in the same direction (strabismus)
- Sensitivity to light (photophobia)
- Differences in the optic nerves
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 says changes in genes cause this condition. It doesn't list a specific gene or how it is inherited in this entry.
Also known as: absent pigmentation in the eye; albinism, ocular; oa - ocular albinism; ocular albinism (disease)
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 Ocular albinism.
Explore research for Ocular albinism
Explore actively recruiting Ocular albinism studies with HealthSpark.
Find actively recruiting studies for Ocular albinism with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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