Living with Progressive retinal dystrophy due to retinol transport defect
A rare genetic eye condition that causes night vision trouble in childhood and gradual loss of sharp vision.
Understanding Progressive retinal dystrophy due to retinol transport defect
It causes a slowly worsening loss of the retina's rod and cone cells. It usually shows up in childhood as trouble seeing at night, followed by gradual loss of sharp vision. Blood levels of retinol are very low. Eye differences (colobomas), severe acne, and high cholesterol have also been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Night blindness (nyctalopia)
- Reduced clarity of vision
- Gap or notch in the iris (iris coloboma)
- Blue-yellow color vision changes
- Acne
- Rough, bumpy skin (follicular hyperkeratosis)
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 RBP4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Foundation Fighting Blindness may keep lists of experts for this condition.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Foundation Fighting Blindness
- 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 Foundation Fighting Blindness
- 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
This condition is caused by changes in the RBP4 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: retinal dystrophy, iris coloboma, and comedogenic acne syndrome; retinol dystrophy-iris coloboma-comedogenic acne syndrome
Patient organizations
- Foundation Fighting BlindnessProgressive retinal dystrophy due to retinol transport defect · United States
You are more than your diagnosis
Perspectives from people navigating life with Progressive retinal dystrophy due to retinol transport defect.
Explore research for Progressive retinal dystrophy due to retinol transport defect
Explore actively recruiting Progressive retinal dystrophy due to retinol transport defect studies with HealthSpark.
Find actively recruiting studies for Progressive retinal dystrophy due to retinol transport defect with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Progressive retinal dystrophy due to retinol transport defect studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Progressive retinal dystrophy due to retinol transport defect
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Progressive retinal dystrophy due to retinol transport defect experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.