Decoding the Mystery of Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Understanding Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy

Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV) is a rare hereditary autoimmune eye disorder caused by mutations in the CAPN5 gene. This progressive disease can lead to blindness despite treatment and is characterized by inflammation, neovascularization, and retinal detachment. In recent years, studies have focused on understanding the disease’s genetic basis and using multimodal imaging and genetic testing to guide treatment and patient care.

Diagnosing ADNIV and Identifying CAPN5 Gene Mutations

Diagnosing ADNIV can be challenging due to its rarity and the fact that its symptoms can resemble other eye disorders. However, recent research has identified specific CAPN5 gene mutations associated with ADNIV, which can aid in the diagnostic process. A study showcasing the spectrum of ADNIV disease using multimodal imaging and genetic testing highlights the utility of these methods in guiding treatment.

Another study reports two new CAPN5 mutations associated with ADNIV, suggesting CAPN5 genetic testing for patients with possible ADNIV phenotype. These findings, along with a comprehensive review of ADNIV, can be found here.

Long-Term Outcomes and Risk Factors for Severe Vision Loss in ADNIV

It is essential to understand the long-term outcomes and risk factors for severe vision loss in ADNIV patients to develop effective treatment strategies and improve patient care. A study analyzing long-term outcomes and risk factors for severe vision loss in ADNIV patients identified tractional retinal detachment as a significant risk factor. This finding highlights the importance of early intervention and close monitoring of patients with ADNIV to prevent severe vision loss.

Benefits of Genetic Testing for ADNIV

Genetic testing for ADNIV offers several advantages that can help improve patient care and guide treatment decisions. Some of the benefits include:

• Accurate diagnosis: Identifying the specific CAPN5 gene mutation associated with ADNIV can help confirm the diagnosis, allowing for appropriate treatment and management.
• Family planning: Genetic testing can provide valuable information for family planning and counseling, as ADNIV is an autosomal dominant disorder, meaning that affected individuals have a 50% chance of passing the condition to their children.
• Personalized treatment: Understanding the genetic basis of ADNIV can help guide treatment decisions and tailor therapy to individual patients, potentially improving outcomes.
• Early intervention: Identifying individuals at risk for ADNIV through genetic testing can enable early intervention and monitoring, potentially preventing severe vision loss and improving quality of life.

Challenges and Limitations of Genetic Testing for ADNIV

While genetic testing for ADNIV offers many benefits, there are also challenges and limitations to consider:

• Accessibility: Genetic testing can be expensive and may not be readily available to all patients, particularly in low-resource settings.
• Interpretation of results: The interpretation of genetic testing results can be complex and may require the expertise of a specialist, such as a genetic counselor or ophthalmologist familiar with ADNIV.
• Psychosocial considerations: Receiving a genetic diagnosis of ADNIV can have significant psychosocial implications for patients and their families, necessitating appropriate counseling and support.

In conclusion, understanding, diagnosing, and using genetic testing for Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy can help improve patient care and guide treatment decisions. As research continues to uncover the genetic basis of this rare eye disorder, it is crucial for healthcare professionals to stay informed and consider the benefits and limitations of genetic testing in their clinical practice.

About The Expert Reviewer

Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of  and the author of ⁠⁠Outsmart Your Genes.

Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (⁠⁠ACMG), an Associate of the American College of Preventive Medicine (⁠⁠ACPM), and a member of the National Society of Genetic Counselors (⁠NSGC)