Overview
Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is an extremely rare genetic condition that affects the brain and eyes. The disease is caused by mutations in a gene that leads to damage of the white matter in the brain (called leukoencephalopathy), strokes caused by blocked blood vessels (ischemic strokes), and a progressive eye condition called retinitis pigmentosa that causes gradual vision loss. The white matter damage in the brain can lead to problems with thinking, movement, and coordination. Ischemic strokes can occur at unusually young ages and may cause sudden weakness, speech difficulties, or other neurological problems. Retinitis pigmentosa typically starts with difficulty seeing in dim light (night blindness) and gradually narrows the field of vision over time. Because this condition affects multiple organ systems — primarily the brain and eyes — patients often need care from several different specialists. There is currently no cure for this syndrome, and treatment focuses on managing symptoms, preventing strokes, and supporting vision. The condition follows an autosomal recessive inheritance pattern, meaning a child must inherit a faulty copy of the gene from both parents to develop the disease.
Key symptoms:
Night blindnessProgressive vision lossNarrowing of the visual field (tunnel vision)Stroke at a young ageSudden weakness on one side of the bodyDifficulty speaking or understanding speechWhite matter changes in the brainProblems with thinking and memoryDifficulty with coordination and balanceHeadachesMuscle stiffness or spasticityFatigueDifficulty walking
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome.
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Specialists
View all specialists →No specialists are currently listed for Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa 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 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome.
Community
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Start the conversation →Latest news about Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
1 articlesCaregiver Resources
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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 specific genetic mutation is causing this condition in my case?,How can we best prevent future strokes?,What is the expected rate of vision loss, and what can we do to support my remaining vision?,Are there any clinical trials or research studies I could participate in?,What therapies (physical, occupational, speech) would benefit me most right now?,How often should I have brain MRI scans and eye exams?,Should my family members be tested to see if they are carriers?
Common questions about Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
What is Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome?
Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is an extremely rare genetic condition that affects the brain and eyes. The disease is caused by mutations in a gene that leads to damage of the white matter in the brain (called leukoencephalopathy), strokes caused by blocked blood vessels (ischemic strokes), and a progressive eye condition called retinitis pigmentosa that causes gradual vision loss. The white matter damage in the brain can lead to problems with thinking, movement, and coordination. Ischemic strokes can occur at unusually young ages and may
How is Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome inherited?
Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.