Living with Oculocutaneous albinism type 7
A form of albinism with lighter skin and hair, quick eye movements, and reduced vision; light sensitivity is not a main feature.
Understanding Oculocutaneous albinism type 7
Hair color can range from light blond to dark brown. People have quick involuntary eye movements (nystagmus), reduced pigment in the back of the eye, and see-through areas of the iris. Vision varies from mildly to severely reduced. Light sensitivity is not a major feature. GARD lists onset as newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Less sharp vision
- Quick, involuntary eye movements (nystagmus)
- Light passing through the iris (iris transillumination)
- Severe farsightedness (high hypermetropia)
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 LRMDA 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 LRMDA 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 vii; lrmda oculocutaneous albinism; oca7; oculocutaneous albinism caused by mutation in lrmda
Patient organizations
- The National Organization of Albinism and Hypopigmentation (NOAH)Oculocutaneous albinism type 7 · 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 7.
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