Autosomal dominant neovascular inflammatory vitreoretinopathy

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ORPHA:329211OMIM:193235H35.2
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Overview

Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is a very rare inherited eye disease that progressively damages the retina — the light-sensing tissue at the back of the eye. It is sometimes also called autosomal dominant vitreoretinochoroidopathy or neovascular inflammatory vitreoretinopathy. The disease is caused by a mutation in the CAPN5 gene, which leads to chronic inflammation inside the eye (uveitis) along with abnormal new blood vessel growth (neovascularization) in the retina. ADNIV typically begins in early adulthood and progresses through several stages over decades. Early on, patients may notice floaters, blurred vision, or mild visual disturbances. As the disease advances, it causes vitreous opacities (clouding of the gel inside the eye), retinal detachment, cataracts, glaucoma, and eventually severe vision loss or blindness. The inflammation can be difficult to control and tends to worsen over time. There is currently no cure for ADNIV. Treatment focuses on managing symptoms and slowing progression. Anti-inflammatory medications, including corticosteroids and immunosuppressive drugs, are used to control the chronic uveitis. Surgical interventions such as vitrectomy (removal of the vitreous gel), cataract surgery, and procedures to repair retinal detachments may be needed as the disease progresses. Anti-VEGF injections may be used to address abnormal blood vessel growth. Despite treatment, many patients experience significant vision loss over time, making ongoing monitoring and early intervention critical.

Also known as:

Key symptoms:

Floaters in the visionBlurred or hazy visionChronic eye inflammation (uveitis)Abnormal blood vessel growth in the retinaVitreous opacities (cloudy gel inside the eye)Cataracts (clouding of the eye lens)Glaucoma (increased eye pressure)Retinal detachmentMacular edema (swelling in the center of the retina)Progressive vision lossLight sensitivity (photophobia)Eye painPeripheral vision lossPhthisis bulbi (shrinking of the eyeball in late stages)

Inheritance

Autosomal dominant

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

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Autosomal dominant neovascular inflammatory vitreoretinopathy.

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No actively recruiting trials found for Autosomal dominant neovascular inflammatory vitreoretinopathy at this time.

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No specialists are currently listed for Autosomal dominant neovascular inflammatory vitreoretinopathy.

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 Autosomal dominant neovascular inflammatory vitreoretinopathy.

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.What stage is my disease currently in, and how quickly might it progress?,What treatment options are available to control the inflammation in my eyes?,Should my family members be tested for the CAPN5 gene mutation?,How often should I have eye examinations to monitor for complications?,Are there any clinical trials or experimental treatments I might be eligible for?,What signs or symptoms should prompt me to seek emergency eye care?,Can you refer me to a low vision rehabilitation specialist?

Common questions about Autosomal dominant neovascular inflammatory vitreoretinopathy

What is Autosomal dominant neovascular inflammatory vitreoretinopathy?

Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is a very rare inherited eye disease that progressively damages the retina — the light-sensing tissue at the back of the eye. It is sometimes also called autosomal dominant vitreoretinochoroidopathy or neovascular inflammatory vitreoretinopathy. The disease is caused by a mutation in the CAPN5 gene, which leads to chronic inflammation inside the eye (uveitis) along with abnormal new blood vessel growth (neovascularization) in the retina. ADNIV typically begins in early adulthood and progresses through several stages over de

How is Autosomal dominant neovascular inflammatory vitreoretinopathy inherited?

Autosomal dominant neovascular inflammatory vitreoretinopathy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Autosomal dominant neovascular inflammatory vitreoretinopathy typically begin?

Typical onset of Autosomal dominant neovascular inflammatory vitreoretinopathy is adult. Age of onset can vary across affected individuals.