Living with Oculocutaneous albinism type 1B
A form of oculocutaneous albinism type 1 with light skin and hair, quick eye movements, and reduced pigment in the eyes.
Understanding Oculocutaneous albinism type 1B
It involves less color in the skin and hair, quick involuntary eye movements (nystagmus), less pigment in the iris and retina, and optic nerves that route abnormally. GARD lists newborn and infant years as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Albinism (lighter skin and hair)
- Quick, involuntary eye movements (nystagmus)
- Sensitivity to light (photophobia)
- Light eye color
- Underdeveloped fovea
- Eyes that don't look in the same direction (strabismus)
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, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in TYR 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); Skin, hair, and nail specialists (dermatologists)
- 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 The National Organization of Albinism and Hypopigmentation (NOAH) and other patient organizations
- 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 TYR gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: albinism, oculocutaneous, type ib; albinism, yellow mutant type; amish albinism; oca1b; oculocutaneous albinism, amish type; platinum oculocutaneous albinism
Patient organizations
- The National Organization of Albinism and Hypopigmentation (NOAH)Oculocutaneous albinism type 1B · United States
- The Vision of Children FoundationOculocutaneous albinism type 1B · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Oculocutaneous albinism type 1B.
Explore research for Oculocutaneous albinism type 1B
Explore actively recruiting Oculocutaneous albinism type 1B studies with HealthSpark.
Find actively recruiting studies for Oculocutaneous albinism type 1B 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Oculocutaneous albinism type 1B studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Oculocutaneous albinism type 1B
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Oculocutaneous albinism type 1B experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.