OBSOLETE: Rare non-syndromic cataract

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ORPHA:217049
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8Treatment centers

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Overview

Rare non-syndromic cataract refers to a clouding of the lens of the eye (cataract) that occurs on its own, without being part of a larger syndrome that affects other body systems. The term 'non-syndromic' means the cataract is the main or only health problem, rather than appearing alongside other features like developmental delays, heart defects, or skeletal abnormalities. These cataracts are often present at birth (congenital) or develop during early childhood, though they can sometimes appear later. They may affect one or both eyes and can range from mild cloudiness to dense opacities that significantly impair vision. Note: This specific Orphanet classification (217049) has been marked as OBSOLETE, meaning it has been reorganized or merged into other, more specific disease entries within the Orphanet rare disease database. Patients and families looking for information should search for more specific subtypes of isolated or non-syndromic congenital cataract based on the type of lens opacity (such as nuclear, lamellar, cortical, or posterior polar cataract) or the specific gene involved. The primary treatment for visually significant cataracts is surgical removal of the cloudy lens, often followed by placement of an artificial intraocular lens or use of contact lenses or glasses to restore focusing ability. Early detection and treatment are critical, especially in young children, because untreated cataracts during the critical period of visual development can lead to permanent vision loss known as amblyopia (lazy eye). After surgery, ongoing follow-up with an eye specialist is essential to monitor for complications and manage visual rehabilitation.

Key symptoms:

Cloudy or white appearance in the pupil of the eyeBlurred or reduced visionDifficulty seeing in low lightSensitivity to bright light (glare)Misaligned eyes (strabismus or crossed eyes)Involuntary eye movements (nystagmus)Poor visual tracking in infantsAmblyopia (lazy eye) if untreatedDifficulty with depth perceptionNeeding to hold objects very close to see them

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 non-syndromic cataract.

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No actively recruiting trials found for OBSOLETE: Rare non-syndromic cataract at this time.

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No specialists are currently listed for OBSOLETE: Rare non-syndromic cataract.

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 non-syndromic cataract.

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Community

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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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.How severe is the cataract, and does it need surgery now or can it be monitored?,What type of vision correction will my child need after surgery — an implanted lens, contact lenses, or glasses?,What is the risk of developing glaucoma or other complications after surgery?,Should we pursue genetic testing to understand the cause and inheritance pattern?,How often will follow-up eye exams be needed after treatment?,What signs of complications should I watch for at home?,Are there any resources or support groups for families dealing with childhood cataracts?

Common questions about OBSOLETE: Rare non-syndromic cataract

What is OBSOLETE: Rare non-syndromic cataract?

Rare non-syndromic cataract refers to a clouding of the lens of the eye (cataract) that occurs on its own, without being part of a larger syndrome that affects other body systems. The term 'non-syndromic' means the cataract is the main or only health problem, rather than appearing alongside other features like developmental delays, heart defects, or skeletal abnormalities. These cataracts are often present at birth (congenital) or develop during early childhood, though they can sometimes appear later. They may affect one or both eyes and can range from mild cloudiness to dense opacities that s