Living with Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
A rare genetic eye condition with an underdeveloped center of the retina, wiring changes in the optic nerves, and eye movement and vision problems.
Understanding Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
People have an underdeveloped fovea (the part of the retina for sharp vision), optic nerve fibers that cross to the brain in an unusual way, and differences in the front part of the eye. This happens without albinism. It causes shaking eye movements from birth and reduced vision, and sometimes crossed eyes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Shaking eye movements (nystagmus)
- Reduced clarity of vision
- Underdeveloped fovea
- Crossed eyes (strabismus)
- 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 SLC38A8 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 SLC38A8 gene cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: fhonda syndrome; foveal hypoplasia 2; foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism; foveal hypoplasia 2 with or without microphthalmia or coloboma; foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis; foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis
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 Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome.
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