What is Fundus pulverulentus?
Fundus pulverulentus is a rare inherited retinal dystrophy classified among the pattern dystrophies of the retinal pigment epithelium (RPE). It is characterized by the widespread distribution of fine, dust-like (pulverulent) yellowish or grayish deposits scattered diffusely across the fundus, primarily at the level of the retinal pigment epithelium. The condition affects the eyes, specifically the macula and broader retinal pigment epithelium layer. It is considered a subtype or variant within the spectrum of pattern dystrophies, which are a group of macular and retinal pigment epithelial disorders. Patients with fundus pulverulentus are often asymptomatic or may experience only mild visual disturbances. Visual acuity is typically preserved or only mildly reduced, particularly in earlier stages. Some patients may notice subtle difficulties with central vision or mild metamorphopsia (distortion of images) as the condition progresses over time. Fluorescein angiography and fundus autofluorescence imaging can help reveal the characteristic pattern of RPE changes. Electroretinography (ERG) findings are usually normal or only mildly abnormal, and electro-oculography (EOG) may show a reduced Arden ratio. Fundus pulverulentus has been associated with mutations in the PRPH2 gene (also known as RDS), which encodes peripherin-2, a structural protein essential for the integrity of photoreceptor outer segment discs. The condition is generally inherited in an autosomal dominant pattern. There is currently no specific treatment or cure for fundus pulverulentus. Management is primarily supportive, involving regular ophthalmologic monitoring to track any progression and to detect potential complications such as choroidal neovascularization, which may rarely occur and can be treated with anti-VEGF therapy. Genetic counseling is recommended for affected individuals and their families.
- Inheritance
- Autosomal dominant
- Passed on from just one parent; each child has about a 50% chance of inheriting it
- Age of Onset
- Adult
- Begins in adulthood (age 18 or older)
Treatments
Source: openFDA + DailyMed · NDA / BLA labels with structured indications · refreshed weekly
No FDA-approved treatments are currently listed for Fundus pulverulentus.
View clinical trials →Clinical Trials
View all trials with filters →Source: ClinicalTrials.gov · synced daily · phases, status, and PI names normalized at ingest
No actively recruiting trials found for Fundus pulverulentus at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →Source: NPI Registry + PubMed · trial PI roles cross-referenced with ClinicalTrials.gov · ranked by match score (publications + PI activity + community signal)
No specialists are currently listed for Fundus pulverulentus.
Treatment Centers
8 centersSource: NORD Rare Disease Centers + NIH Undiagnosed Diseases Network (UDN) · centers verified active within last 12 months
Children's Hospital Colorado Rare Disease Program ↗
Children's Hospital Colorado
📍 Aurora, CO
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDBoston Children's Hospital Rare Disease Program ↗
Boston Children's Hospital
📍 Boston, MA
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
🏨 Children'sAnn & Robert H. Lurie Children's Hospital Genetics ↗
Lurie Children's Hospital
📍 Chicago, IL
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDCincinnati Children's Hospital Medical Center ↗
Cincinnati Children's
📍 Cincinnati, OH
👤 Boston Children's Hospital Rare Disease Program
🏨 Children'sNationwide Children's Hospital Rare Disease Center ↗
Nationwide Children's Hospital
📍 Columbus, OH
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
Travel Grants
No travel grants are currently matched to Fundus pulverulentus.
Community
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Start the conversation →Latest news about Fundus pulverulentus
Source: PubMed + NIH RePORTER + openFDA + clinical-journal RSS · last 30 days · disease-tagged at ingest by AI extraction with human QC
No recent news articles for Fundus pulverulentus.
Follow this condition to be notified when news becomes available.
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.
Common questions about Fundus pulverulentus
What is Fundus pulverulentus?
Fundus pulverulentus is a rare inherited retinal dystrophy classified among the pattern dystrophies of the retinal pigment epithelium (RPE). It is characterized by the widespread distribution of fine, dust-like (pulverulent) yellowish or grayish deposits scattered diffusely across the fundus, primarily at the level of the retinal pigment epithelium. The condition affects the eyes, specifically the macula and broader retinal pigment epithelium layer. It is considered a subtype or variant within the spectrum of pattern dystrophies, which are a group of macular and retinal pigment epithelial diso
How is Fundus pulverulentus inherited?
Fundus pulverulentus follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Fundus pulverulentus typically begin?
Typical onset of Fundus pulverulentus is adult. Age of onset can vary across affected individuals.
Frequently asked questions about Fundus pulverulentus
Auto-generated from canonical disease facts (Orphanet, OMIM, ClinicalTrials.gov, openFDA, NPPES). Not a substitute for clinical guidance.
What is Fundus pulverulentus?
Fundus pulverulentus is a rare disease catalogued in international rare-disease ontologies (Orphanet ORPHA:99004). It is typically inherited as autosomal dominant. Age of onset is generally adult. For verified primary sources, see the UniteRare Fundus pulverulentus page.
How is Fundus pulverulentus inherited?
Fundus pulverulentus follows autosomal dominant inheritance. Genetic counseling is recommended for affected families to understand recurrence risk in offspring and the likelihood of unaffected siblings being carriers. Variants in the underlying gene(s) may be identified via clinical genetic testing.
Are there FDA-approved treatments for Fundus pulverulentus?
Approved treatments for Fundus pulverulentus are tracked from openFDA and DailyMed primary sources. Many rare diseases have no specific FDA-approved therapy; for those, supportive care and management of complications form the basis of clinical care. Orphan-drug-designation status is noted where applicable.
Are there clinical trials for Fundus pulverulentus?
Active clinical trials for Fundus pulverulentus are tracked daily from ClinicalTrials.gov. Trial availability changes frequently; check the UniteRare trial listings for the current count and recruitment status. Sponsors of rare-disease research often welcome inquiries even when a trial is not actively recruiting at a given moment.
How do I find a specialist for Fundus pulverulentus?
Verified Fundus pulverulentus specialists are identified through ClinicalTrials.gov principal-investigator records, peer-reviewed publication authorship (via PubMed), and the NPPES NPI registry. NORD-designated Centers of Excellence and NIH-affiliated rare-disease clinics are also tracked. UniteRare's specialist directory is updated continuously as new evidence becomes available.
See full Fundus pulverulentus page for complete clinical details, sources, and verified-specialist listings.
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