Living with Ocular albinism, type I
An X-linked eye condition, mainly in males, with less pigment in the iris and retina, poor vision, and quick eye movements.
Understanding Ocular albinism, type I
Signs include underdevelopment of the fovea (the part of the retina for sharp vision), rapid involuntary eye movements (nystagmus), poor vision and depth perception, eyes that don't look in the same direction, and light sensitivity. Females have been affected in rare cases. 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:
- Lack of pigment in the eye
- Quick, involuntary eye movements (nystagmus)
- Extreme sensitivity to light (photophobia)
- Eyes that don't look in the same direction (strabismus)
- Underdeveloped fovea
- Light eye color and astigmatism
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 GPR143 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 Prevent Blindness America 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 GPR143 gene cause this condition. It is inherited in an X-linked recessive way, which is why it mainly affects males.
Also known as: nettleship-falls syndrome; nettleship-falls type ocular albinism; oa1; oa1 - x-linked ocular albinism; ocular albinism type 1; ocular albinism, nettleship-falls type
Patient organizations
- Prevent Blindness AmericaOcular albinism, type I · United States
- The National Organization of Albinism and Hypopigmentation (NOAH)Ocular albinism, type I · United States
- The Vision of Children FoundationOcular albinism, type I · United States
You are more than your diagnosis
Perspectives from people navigating life with Ocular albinism, type I.
Explore research for Ocular albinism, type I
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