OBSOLETE: Rare genetic refraction anomaly

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ORPHA:183601
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Overview

This Orphanet entry (code 183601) is listed as 'OBSOLETE: Rare genetic refraction anomaly,' which means it is no longer an active or recognized classification in the Orphanet rare disease database. Refraction anomalies refer to problems with how the eye focuses light, such as nearsightedness (myopia), farsightedness (hyperopia), and astigmatism. In rare cases, these vision problems can have a strong genetic basis and may be unusually severe or appear as part of a broader genetic syndrome. Because this entry has been marked obsolete, the conditions it once described have likely been reclassified, merged into other disease entries, or are now categorized under more specific diagnoses. If you or a family member were previously given this diagnosis, it is important to speak with an ophthalmologist or clinical geneticist to determine the current, updated name and classification for your condition. An updated diagnosis can help you access the most relevant medical information, genetic testing, clinical trials, and support resources. Treatment for genetic refraction problems typically includes corrective lenses (glasses or contact lenses), and in some cases refractive surgery. If the refraction anomaly is part of a larger genetic syndrome, additional treatments may be needed depending on the other body systems involved.

Key symptoms:

Blurry visionDifficulty seeing objects up close or far awayEye strain or headachesSquinting to see clearlyDifficulty reading or doing close-up workProblems with night vision

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Rare genetic refraction anomaly.

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No actively recruiting trials found for OBSOLETE: Rare genetic refraction anomaly at this time.

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No specialists are currently listed for OBSOLETE: Rare genetic refraction anomaly.

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 OBSOLETE: Rare genetic refraction anomaly.

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Community

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Latest news about OBSOLETE: Rare genetic refraction anomaly

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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.

Questions for your doctor

Bring these to your next appointment

  • Q1.This diagnosis is listed as obsolete — what is the current name or classification for my condition?,Is my refraction problem part of a larger genetic syndrome?,Should I or my family members have genetic testing?,How often should I have my eyes checked?,Are there any new treatments or clinical trials I should know about?,Will my vision likely get worse over time?,What can I do to protect my vision in daily life?

Common questions about OBSOLETE: Rare genetic refraction anomaly

What is OBSOLETE: Rare genetic refraction anomaly?

This Orphanet entry (code 183601) is listed as 'OBSOLETE: Rare genetic refraction anomaly,' which means it is no longer an active or recognized classification in the Orphanet rare disease database. Refraction anomalies refer to problems with how the eye focuses light, such as nearsightedness (myopia), farsightedness (hyperopia), and astigmatism. In rare cases, these vision problems can have a strong genetic basis and may be unusually severe or appear as part of a broader genetic syndrome. Because this entry has been marked obsolete, the conditions it once described have likely been reclassifi