OBSOLETE: Autosomal recessive childhood-onset cortical cataract

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ORPHA:217046
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Overview

Autosomal recessive childhood-onset cortical cataract is a rare inherited eye condition in which the lens of the eye becomes cloudy (a cataract) during childhood. The cloudiness specifically affects the outer layer of the lens, known as the cortex. Because this condition follows an autosomal recessive inheritance pattern, a child must inherit a changed (mutated) copy of the responsible gene from both parents to develop the disease. Parents who each carry one copy of the gene change typically have clear vision themselves and may not know they are carriers. This condition is now classified as 'obsolete' in the Orphanet database, meaning it has likely been reclassified or merged into a broader category of inherited childhood cataracts. Childhood cataracts, regardless of the specific subtype, can cause blurred or reduced vision, difficulty with glare, and in some cases may lead to amblyopia (lazy eye) if not treated early. The degree of vision loss depends on how much of the lens is affected and how quickly the cataract progresses. Treatment typically involves surgical removal of the cloudy lens, often followed by placement of an artificial lens implant or the use of corrective glasses or contact lenses. Early detection and treatment are important to support normal visual development in children. With timely surgery and appropriate follow-up care, many children can achieve good functional vision. Long-term monitoring by an eye specialist is essential to watch for complications such as secondary cataracts, glaucoma, or other eye problems that can occur after surgery.

Key symptoms:

Cloudy or white appearance in the pupil of the eyeBlurred or hazy visionDifficulty seeing in bright light or glare sensitivityReduced vision in one or both eyesTrouble with depth perceptionSquinting or closing one eyeMisaligned eyes (strabismus)Lazy eye (amblyopia) if untreatedDifficulty reading or seeing the board at schoolNystagmus (involuntary eye movements) in severe cases

Inheritance

Autosomal recessive

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

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Autosomal recessive childhood-onset cortical cataract.

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No specialists are currently listed for OBSOLETE: Autosomal recessive childhood-onset cortical cataract.

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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

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.How much of my child's lens is affected, and how is this impacting their vision?,When is the best time to perform cataract surgery for my child?,What type of lens correction will my child need after surgery?,What are the risks and potential complications of surgery?,Should we pursue genetic testing to identify the specific gene involved?,What is the chance that our other children or future children could have the same condition?,What support services are available to help my child succeed in school?

Common questions about OBSOLETE: Autosomal recessive childhood-onset cortical cataract

What is OBSOLETE: Autosomal recessive childhood-onset cortical cataract?

Autosomal recessive childhood-onset cortical cataract is a rare inherited eye condition in which the lens of the eye becomes cloudy (a cataract) during childhood. The cloudiness specifically affects the outer layer of the lens, known as the cortex. Because this condition follows an autosomal recessive inheritance pattern, a child must inherit a changed (mutated) copy of the responsible gene from both parents to develop the disease. Parents who each carry one copy of the gene change typically have clear vision themselves and may not know they are carriers. This condition is now classified as '

How is OBSOLETE: Autosomal recessive childhood-onset cortical cataract inherited?

OBSOLETE: Autosomal recessive childhood-onset cortical cataract follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does OBSOLETE: Autosomal recessive childhood-onset cortical cataract typically begin?

Typical onset of OBSOLETE: Autosomal recessive childhood-onset cortical cataract is childhood. Age of onset can vary across affected individuals.