Overview
Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome (sometimes abbreviated as ROSAM syndrome) is an extremely rare multi-system disorder that affects several parts of the body at once. The condition is characterized by a combination of eye problems, an enlarged spleen, inability to sweat properly, and severe headaches. The retinal dystrophy component means that the light-sensing tissue at the back of the eye gradually deteriorates, which can lead to progressive vision loss. Optic nerve edema refers to swelling of the nerve that connects the eye to the brain, which can further impair vision. Splenomegaly, or enlargement of the spleen, may affect how the body filters blood and fights infections. Anhidrosis, the inability to sweat normally, can make it difficult for the body to regulate its temperature, putting affected individuals at risk of overheating. Migraine headaches add another layer of discomfort and disability. Because this syndrome is so rare, the treatment landscape is currently limited to managing each symptom individually. There is no known cure, and research into the underlying cause and targeted therapies is still in very early stages. Patients typically require care from multiple specialists to address the different organ systems involved.
Also known as:
Key symptoms:
Progressive vision lossSwelling of the optic nerveEnlarged spleenInability to sweat or reduced sweatingSevere migraine headachesSensitivity to lightNight blindness or difficulty seeing in dim lightHeat intoleranceFatigueAbdominal discomfort or fullness from enlarged spleenVisual field loss
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
FDA & Trial Timeline
1 eventHospices Civils de Lyon
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome.
Community
No community posts yet. Be the first to share your experience with Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome.
Start the conversation →Latest news about Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome
Disease timeline:
New recruiting trial: Evaluate DF-003 in ex Vivo Assays Using Peripheral Blood Mononuclear Cell From Subjects With ROSAH Syndrome
A new clinical trial is recruiting patients for Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the current status of my vision, and how quickly might it change?,How should I manage my inability to sweat in daily life and during exercise?,How often should my spleen be monitored, and what warning signs should I watch for?,What are the best options for preventing and treating my migraine headaches?,Is genetic testing recommended for me and my family members?,Are there any clinical trials or research studies I could participate in?,What low-vision resources or assistive devices might help me?
Common questions about Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome
What is Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome?
Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome (sometimes abbreviated as ROSAM syndrome) is an extremely rare multi-system disorder that affects several parts of the body at once. The condition is characterized by a combination of eye problems, an enlarged spleen, inability to sweat properly, and severe headaches. The retinal dystrophy component means that the light-sensing tissue at the back of the eye gradually deteriorates, which can lead to progressive vision loss. Optic nerve edema refers to swelling of the nerve that connects the eye to the brain,
How is Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome inherited?
Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome typically begin?
Typical onset of Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome is adult. Age of onset can vary across affected individuals.
Are there clinical trials for Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome?
Yes — 1 recruiting clinical trial is currently listed for Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.