Overview
Progressive retinal dystrophy due to retinol transport defect is a rare inherited eye condition that causes gradual vision loss over time. This disease occurs because the body has trouble transporting retinol (a form of vitamin A) to the retina, which is the light-sensing tissue at the back of the eye. Vitamin A is essential for the retina to function properly, especially for seeing in dim light and maintaining the health of the photoreceptor cells (the cells that detect light). Patients with this condition typically develop night blindness first, meaning they have difficulty seeing in low-light conditions. Over time, the visual field narrows, leading to tunnel vision, and central vision may also decline. The retina gradually deteriorates because it does not receive enough retinol to maintain healthy photoreceptor cells. This process is progressive, meaning it worsens over time. The condition is linked to defects in the RBP4 gene, which provides instructions for making retinol-binding protein 4 — the main protein responsible for carrying vitamin A through the bloodstream to the eyes and other tissues. Treatment options are limited but may include vitamin A supplementation and supportive eye care. Early diagnosis and management are important to help preserve vision for as long as possible. The condition shares features with other forms of retinitis pigmentosa and retinal dystrophies, but its specific cause related to vitamin A transport sets it apart.
Key symptoms:
Night blindness (difficulty seeing in dim light)Gradual loss of peripheral (side) visionTunnel visionDecreased central vision over timeDifficulty adjusting from bright to dark environmentsLow levels of vitamin A in the bloodLow levels of retinol-binding protein in the bloodProgressive worsening of visionAbnormal appearance of the retina on eye examDifficulty with activities in low-light settings
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Progressive retinal dystrophy due to retinol transport defect.
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Specialists
View all specialists →No specialists are currently listed for Progressive retinal dystrophy due to retinol transport defect.
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 Progressive retinal dystrophy due to retinol transport defect.
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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.How quickly is my (or my child's) vision expected to change over time?,Would vitamin A supplementation be helpful and safe in my specific case?,What low vision aids or assistive technologies do you recommend?,Are there any clinical trials or emerging treatments I should know about?,How often should I have eye exams to monitor the condition?,Should my family members be tested for this genetic condition?,What accommodations should be made at school or work to support my vision needs?
Common questions about Progressive retinal dystrophy due to retinol transport defect
What is Progressive retinal dystrophy due to retinol transport defect?
Progressive retinal dystrophy due to retinol transport defect is a rare inherited eye condition that causes gradual vision loss over time. This disease occurs because the body has trouble transporting retinol (a form of vitamin A) to the retina, which is the light-sensing tissue at the back of the eye. Vitamin A is essential for the retina to function properly, especially for seeing in dim light and maintaining the health of the photoreceptor cells (the cells that detect light). Patients with this condition typically develop night blindness first, meaning they have difficulty seeing in low-li
How is Progressive retinal dystrophy due to retinol transport defect inherited?
Progressive retinal dystrophy due to retinol transport defect follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Progressive retinal dystrophy due to retinol transport defect typically begin?
Typical onset of Progressive retinal dystrophy due to retinol transport defect is childhood. Age of onset can vary across affected individuals.