Living with Pigmentary retinal dystrophy
An inherited eye condition of the retina, the light-sensing tissue at the back of the eye, that can start in childhood.
Understanding Pigmentary retinal dystrophy
GARD lists childhood as a typical time for it to begin. It can be passed down in an autosomal dominant or autosomal recessive pattern. GARD's text for this record describes fundus albipunctatus, a related eye disorder with night blindness and whitish-yellow flecks in the retina. Its vision in bright light is usually normal.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its description mentions these eye changes:
- Trouble seeing in low light (night blindness)
- Slow adjusting from bright light to dark
- Whitish-yellow flecks in the retina
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
GARD says changes in genes cause this condition but doesn't name a gene. It can be inherited in a dominant pattern (one changed copy is enough) or a recessive pattern (a changed copy from each parent).
Also known as: fundus albipunctatus; prph2-related fundus albipunctatus; rdh5-related fundus albipunctatus; rlbp1-related fundus albipunctatus
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 Pigmentary retinal dystrophy.
Explore research for Pigmentary retinal dystrophy
Explore actively recruiting Pigmentary retinal dystrophy studies with HealthSpark.
Find actively recruiting studies for Pigmentary 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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