Living with Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
A rare genetic condition with eye and optic nerve problems, an enlarged spleen, low blood counts, and little or no sweating.
Understanding Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
GARD describes a very enlarged spleen with low blood cell counts, and long-lasting swelling of the optic nerve that begins in childhood and slowly reduces vision. Other features include lack of sweating, hives, and headaches. It is thought to be genetic.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged spleen (splenomegaly)
- Low blood cell counts (pancytopenia)
- Retina damage (cone or cone-rod dystrophy)
- Lack of sweating (anhidrosis)
- Migraine
- Slowly worsening vision loss
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 ALPK1 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
It is caused by changes in the ALPK1 gene. It is autosomal dominant, so one changed copy of the gene can be enough to cause it.
Also known as: optic nerve edema-splenomegaly syndrome; optic nerve edema, splenomegaly syndrome; retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome; retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache; rosah; rosah syndrome
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 Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome.
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