Familial benign flecked retina

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ORPHA:363989OMIM:228980H35.5
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Overview

Familial benign flecked retina (FBFR) is a rare inherited eye condition that affects the retina, which is the light-sensitive layer at the back of the eye. In this condition, small yellowish-white spots or "flecks" are scattered across the retina. These flecks are typically discovered during a routine eye exam because, in most cases, people with this condition have normal or near-normal vision and do not experience significant visual symptoms. The word "benign" in the name reflects the fact that this condition generally does not worsen over time and does not lead to serious vision loss. Familial benign flecked retina is important to distinguish from other flecked retina conditions that can be more serious, such as fundus flavimaculatus (Stargardt disease), fundus albipunctatus, or retinitis punctata albescens. Unlike those conditions, FBFR does not typically cause progressive damage to the retina or significant decline in visual function. The flecks are thought to result from deposits in the retinal pigment epithelium or deeper retinal layers. Because this condition is benign, there is usually no specific treatment required. Regular monitoring by an eye specialist is recommended to confirm the diagnosis and ensure that the condition remains stable over time. Genetic counseling may be helpful for affected families who want to understand the inheritance pattern and the chance of passing the condition to future generations.

Key symptoms:

Small yellowish-white spots (flecks) scattered across the retinaUsually no noticeable vision problemsNormal or near-normal visual sharpnessNormal color visionNormal night visionFlecks found incidentally during routine eye exams

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Familial benign flecked retina.

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No actively recruiting trials found for Familial benign flecked retina at this time.

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No specialists are currently listed for Familial benign flecked retina.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Familial benign flecked retina.

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Community

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Questions for your doctor

Bring these to your next appointment

  • Q1.How can you be sure this is the benign form of flecked retina and not a more serious condition?,Should I or my child have genetic testing to confirm the diagnosis?,How often should follow-up eye exams be scheduled?,Are there any signs or symptoms I should watch for that might suggest the condition is changing?,Should other family members be examined for this condition?,Will this condition affect my child's ability to drive, play sports, or attend school normally?,Is genetic counseling recommended for our family?

Common questions about Familial benign flecked retina

What is Familial benign flecked retina?

Familial benign flecked retina (FBFR) is a rare inherited eye condition that affects the retina, which is the light-sensitive layer at the back of the eye. In this condition, small yellowish-white spots or "flecks" are scattered across the retina. These flecks are typically discovered during a routine eye exam because, in most cases, people with this condition have normal or near-normal vision and do not experience significant visual symptoms. The word "benign" in the name reflects the fact that this condition generally does not worsen over time and does not lead to serious vision loss. Famil

How is Familial benign flecked retina inherited?

Familial benign flecked retina follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.