Living with Bothnia retinal dystrophy
A rare inherited eye condition, mostly seen in Northern Sweden, that starts with night blindness in childhood.
Understanding Bothnia retinal dystrophy
It begins in early childhood with night blindness and slowly worsening damage to the center of the retina (maculopathy), which lowers sharpness of vision. The visual fields are affected, and sight keeps declining into adulthood. A typical pattern of small white spots (retinitis punctata albescens) is seen in the back of the eye.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Night blindness
- Vision that slowly worsens
- Loss of part of the visual field
- Changes in color vision
- Damage to the center of the retina (macular degeneration)
- Retinal degeneration
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 RLBP1 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
Changes in the RLBP1 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: vasterbotten dystrophy; västerbotten dystrophy
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 Bothnia retinal dystrophy.
Explore research for Bothnia retinal dystrophy
Explore actively recruiting Bothnia retinal dystrophy studies with HealthSpark.
Find actively recruiting studies for Bothnia retinal dystrophy 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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