Living with Isolated optic nerve hypoplasia
A rare eye condition in which the optic nerve, which carries signals from the eye to the brain, is underdeveloped, with vision ranging from normal to severely reduced.
Understanding Isolated optic nerve hypoplasia
The optic nerve has fewer nerve fibers than usual. It can affect one or both eyes, and may occur alone or with other eye or brain differences. An eye exam shows a small optic disc, often with a "double-ring" sign. Vision may be severely reduced or may be unaffected.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Underdeveloped optic nerve
- Less clear vision
- Visual impairment
- Quick, rhythmic eye movements (nystagmus)
- Small optic disc seen on eye exam
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 PAX6 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 The MAGIC 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
Changes in the PAX6 gene are listed. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: bilateral optic nerve hypoplasia; familial bilateral optic nerve hypoplasia; optic nerve hypoplasia; optic nerve hypoplasia, bilateral; optic nerve hypoplasia, familial bilateral
Patient organizations
- The MAGIC FoundationIsolated optic nerve hypoplasia · United States
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