Living with X-linked cone dysfunction syndrome with myopia
An X-linked eye condition with moderate to high nearsightedness, astigmatism, and a type of color vision difference.
Understanding X-linked cone dysfunction syndrome with myopia
Deuteranopia is a type of color vision difference. It usually shows in childhood. GARD says the gene region has been mapped to Xq28.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these:
- Moderate to high nearsightedness (myopia)
- Astigmatism
- Color vision difference (deuteranopia)
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.
- 4Connect with expert centers
BCM Families Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: BCM Families Foundation
- 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 BCM Families Foundation
- 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 it is X-linked recessive, and the gene location has been mapped to Xq28. It doesn't name a gene.
Also known as: bornholm eye disease; bornholm eye disease, x-linked recessive; high myopia with nonprogressive cone dysfunction
Patient organizations
- BCM Families FoundationX-linked cone dysfunction syndrome with myopia · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked cone dysfunction syndrome with myopia.
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