Living with Aland island eye disease
An inherited eye condition present from early life with reduced vision, shaky eye movements, and trouble seeing in the dark.
Understanding Aland island eye disease
It involves a pale back of the eye (fundus hypopigmentation), reduced sharpness of vision, rapid involuntary eye movements (nystagmus), astigmatism, nearsightedness that slowly worsens, trouble adjusting to the dark, and a type of red-green color blindness (protanopia). It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Reduced sharpness of vision
- Nearsightedness (myopia)
- Astigmatism
- Trouble adjusting from light to dark
- Color vision problems
- Pale back of the eye (fundus hypopigmentation)
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 CACNA1F 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 CACNA1F gene cause this condition. It is X-linked recessive.
Also known as: aied; forsius eriksson type ocular albinism; forsius-eriksson syndrome; forsius-eriksson type ocular albinism; åland islands eye 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 Aland island eye disease.
Explore research for Aland island eye disease
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- Recruiting studies from ClinicalTrials.gov
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- 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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