Familial pterygium of the conjunctiva

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ORPHA:2989OMIM:178000H11.0
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Overview

Familial pterygium of the conjunctiva is a rare inherited ocular condition characterized by the development of pterygia — wing-shaped, fibrovascular growths of the conjunctiva that extend onto the cornea. While pterygium is relatively common in the general population (particularly in individuals with high ultraviolet light exposure), the familial form is distinguished by its occurrence in multiple members of the same family, suggesting a genetic predisposition independent of or in addition to environmental factors. The condition primarily affects the eye, specifically the conjunctival and corneal surfaces, and typically presents as a fleshy, triangular tissue growth that extends from the nasal conjunctiva across the limbus onto the cornea. Clinically, patients may experience ocular irritation, redness, foreign body sensation, tearing, and cosmetic concerns. As the pterygium progresses and encroaches onto the central cornea, it can induce astigmatism and visual impairment. In familial cases, pterygia may appear at a younger age than sporadic cases and can be bilateral. The condition tends to be more prevalent in families living in regions with high sun exposure, suggesting a gene-environment interaction. Treatment for familial pterygium of the conjunctiva is similar to that for sporadic pterygium. Conservative management includes lubricating eye drops and protection from ultraviolet light exposure. Surgical excision is indicated when the pterygium threatens the visual axis, causes significant astigmatism, or produces persistent discomfort. Various surgical techniques exist, including conjunctival autografting and amniotic membrane transplantation, which help reduce the notably high recurrence rate associated with this condition. No specific gene therapy or targeted molecular treatment is currently available.

Clinical phenotype terms— hover any for plain English:

Opacification of the corneal stromaHP:0007759
Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

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 Familial pterygium of the conjunctiva.

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No actively recruiting trials found for Familial pterygium of the conjunctiva at this time.

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No specialists are currently listed for Familial pterygium of the conjunctiva.

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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 Familial pterygium of the conjunctiva.

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Common questions about Familial pterygium of the conjunctiva

What is Familial pterygium of the conjunctiva?

Familial pterygium of the conjunctiva is a rare inherited ocular condition characterized by the development of pterygia — wing-shaped, fibrovascular growths of the conjunctiva that extend onto the cornea. While pterygium is relatively common in the general population (particularly in individuals with high ultraviolet light exposure), the familial form is distinguished by its occurrence in multiple members of the same family, suggesting a genetic predisposition independent of or in addition to environmental factors. The condition primarily affects the eye, specifically the conjunctival and corn

How is Familial pterygium of the conjunctiva inherited?

Familial pterygium of the conjunctiva follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.