Unilateral ocular duplication

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Overview

Unilateral ocular duplication, also known as diplophthalmos, is an extremely rare congenital condition in which a person is born with two separate eyeballs (or a partially duplicated eye) within a single eye socket on one side of the face. This condition is present at birth and results from abnormal development of the eye structures during early pregnancy. The duplicated eye may be fully formed or only partially developed, and the degree of vision in the affected side varies widely — in many cases, useful vision on the affected side is limited or absent. The unaffected eye typically functions normally. Because this condition is so rare, there are only a handful of cases described in the medical literature. The exact cause is not well understood, and no specific gene has been consistently linked to it. It is generally considered a sporadic developmental anomaly, meaning it occurs by chance rather than being inherited from parents. Treatment is primarily supportive and depends on the specific anatomy and any complications present. Surgery may be considered to address cosmetic concerns, remove a non-functional duplicated eye, or correct structural problems in the eye socket. An ophthalmologist and a craniofacial surgeon are typically involved in care. Prosthetic options may also be discussed to improve appearance. Long-term follow-up is important to monitor the health of the normal eye and to address any psychological or social impacts of the condition.

Also known as:

Key symptoms:

Two eyeballs or a partially duplicated eye in one eye socketAbnormal appearance of one eye areaReduced or absent vision on the affected sideAbnormally shaped or enlarged eye socketMisaligned eyesTearing or discharge from the affected sidePossible eyelid abnormalities on the affected sideNormal vision in the unaffected eye

Clinical phenotype terms (18)— hover any for plain English
Abnormal cranial suture/fontanelle morphologyHP:0000235Abnormal pupil morphologyHP:0000615Midline facial cleftHP:0100629
Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Unilateral ocular duplication.

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No actively recruiting trials found for Unilateral ocular duplication at this time.

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No specialists are currently listed for Unilateral ocular duplication.

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 Unilateral ocular duplication.

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Community

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Latest news about Unilateral ocular duplication

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Caregiver Resources

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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 much vision, if any, does my child have in the duplicated eye?,Is surgery recommended, and what are the risks and benefits?,Are there any other birth defects or conditions we should screen for?,Will my child need a prosthetic eye, and when should that be fitted?,How often should my child's healthy eye be checked?,What support is available for the emotional and social impact of this condition?,Is genetic testing recommended for our family?

Common questions about Unilateral ocular duplication

What is Unilateral ocular duplication?

Unilateral ocular duplication, also known as diplophthalmos, is an extremely rare congenital condition in which a person is born with two separate eyeballs (or a partially duplicated eye) within a single eye socket on one side of the face. This condition is present at birth and results from abnormal development of the eye structures during early pregnancy. The duplicated eye may be fully formed or only partially developed, and the degree of vision in the affected side varies widely — in many cases, useful vision on the affected side is limited or absent. The unaffected eye typically functions

How is Unilateral ocular duplication inherited?

Unilateral ocular duplication follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Unilateral ocular duplication typically begin?

Typical onset of Unilateral ocular duplication is neonatal. Age of onset can vary across affected individuals.