Kandori fleck retina

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ORPHA:99179OMIM:228990H35.5
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8Treatment centers

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Overview

Kandori fleck retina (also known as Kandori's fleck retina or fleck retina of Kandori) is a rare inherited retinal dystrophy first described by the Japanese ophthalmologist Fumio Kandori in 1959. It is characterized by the presence of large, irregular, yellowish-white flecks located predominantly in the midperipheral and peripheral regions of the retina, typically sparing the macula. These flecks are thought to represent abnormal deposits at the level of the retinal pigment epithelium (RPE). The condition primarily affects the eyes and is generally considered a stationary or very slowly progressive disorder. Most affected individuals maintain good central visual acuity throughout life, though some patients may experience mild difficulties with dark adaptation (night vision disturbances or nyctalopia). Electroretinography (ERG) findings are typically normal or show only mild abnormalities. The fundoscopic appearance of the flecks is distinctive and helps differentiate this condition from other flecked retina syndromes such as fundus flavimaculatus (Stargardt disease), fundus albipunctatus, or familial drusen. There is currently no specific treatment for Kandori fleck retina. Management is primarily supportive, involving regular ophthalmologic monitoring to track any changes in visual function or retinal appearance. Given the generally benign course of the disease, the visual prognosis is favorable for most patients. Genetic counseling may be offered to affected families. The condition remains extremely rare, with only a limited number of cases reported in the medical literature, predominantly from Japan.

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 Kandori fleck retina.

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No actively recruiting trials found for Kandori fleck retina at this time.

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No specialists are currently listed for Kandori fleck retina.

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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 Kandori fleck retina.

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Community

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Caregiver Resources

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Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about Kandori fleck retina

What is Kandori fleck retina?

Kandori fleck retina (also known as Kandori's fleck retina or fleck retina of Kandori) is a rare inherited retinal dystrophy first described by the Japanese ophthalmologist Fumio Kandori in 1959. It is characterized by the presence of large, irregular, yellowish-white flecks located predominantly in the midperipheral and peripheral regions of the retina, typically sparing the macula. These flecks are thought to represent abnormal deposits at the level of the retinal pigment epithelium (RPE). The condition primarily affects the eyes and is generally considered a stationary or very slowly progr

How is Kandori fleck retina inherited?

Kandori fleck retina follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.