Serpiginous choroiditis

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ORPHA:35686H30.8
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Overview

Serpiginous choroiditis, also known as geographic helicoid peripapillary choroidopathy or serpiginous choroidopathy, is a rare, chronic, progressive inflammatory eye disease that primarily affects the choroid and retinal pigment epithelium (RPE). The condition is characterized by recurrent episodes of inflammation that typically begin around the optic disc (peripapillary region) and extend outward in a serpentine or snake-like pattern, leading to progressive destruction of the choroid and overlying RPE. It predominantly affects the posterior segment of the eye and can be unilateral or bilateral, though bilateral involvement is more common. Patients typically present with blurred vision, central or paracentral scotomas (blind spots), and metamorphopsia (visual distortion). The disease follows a relapsing and remitting course, with each recurrence causing further atrophy of the choroid and RPE. When the macula becomes involved, significant and often permanent visual loss can occur. The condition most commonly affects otherwise healthy adults, typically between the ages of 30 and 70, with a slight male predominance reported in some series. The exact cause of serpiginous choroiditis remains unknown, though an autoimmune mechanism targeting choroidal vasculature is suspected. An association with tuberculosis has been described in endemic regions, leading to the concept of tubercular serpiginous-like choroiditis, which must be distinguished from the idiopathic form. Treatment typically involves systemic immunosuppressive therapy, including corticosteroids, antimetabolites (such as azathioprine or mycophenolate mofetil), and alkylating agents (such as cyclophosphamide) for refractory cases. Anti-VEGF agents and biologic therapies have also been used in select cases. In tubercular serpiginous-like choroiditis, antitubercular therapy is a critical component of management. Early and aggressive treatment is important to limit disease progression and preserve vision.

Also known as:

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Serpiginous choroiditis.

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No actively recruiting trials found for Serpiginous choroiditis at this time.

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Specialists

1 foundView all specialists →
AM
Ahmad M Mansour, MD
Specialist
PI on 3 active trials

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 Serpiginous choroiditis.

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Common questions about Serpiginous choroiditis

What is Serpiginous choroiditis?

Serpiginous choroiditis, also known as geographic helicoid peripapillary choroidopathy or serpiginous choroidopathy, is a rare, chronic, progressive inflammatory eye disease that primarily affects the choroid and retinal pigment epithelium (RPE). The condition is characterized by recurrent episodes of inflammation that typically begin around the optic disc (peripapillary region) and extend outward in a serpentine or snake-like pattern, leading to progressive destruction of the choroid and overlying RPE. It predominantly affects the posterior segment of the eye and can be unilateral or bilatera

How is Serpiginous choroiditis inherited?

Serpiginous choroiditis follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Serpiginous choroiditis typically begin?

Typical onset of Serpiginous choroiditis is adult. Age of onset can vary across affected individuals.

Which specialists treat Serpiginous choroiditis?

1 specialists and care centers treating Serpiginous choroiditis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.