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Pediatric CAPN5 syndrome discussed at AESC Meeting

Jul 31 2018

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20/20 Blog

Park City, UT — Every summer for the past sixty-one years, the American Eye Study Club (AESC) has brought together ophthalmologists from across the country to share their expertise. Topics range from new surgical techniques and eye research to personalized patient care and global ophthalmology. 

Stanford ophthalmologist  Vinit Mahajan M.D., Ph.D. spoke to the group about “Pediatric Neovascular Inflammatory Vitreoretinopathy (NIV) Due to CAPN5 Mutations.” Mahajan’s lab recently discovered the novel CAPN5 mutation in a pediatric patient with severe inflammatory vitreoretinopathy accompanied by hearing loss and developmental delay. This was the first described case of a CAPN5 mutation in a patient with disease outside the eye. Structural modeling and enzymatic assays revealed the mutation shows greater hyperactivation of the calpain protease, indicating a genotype-phenotype correlation that links mutation severity to proteolytic activity. 

Mahajan said, “AESC meetings give me the opportunity to share my basic research with clinical ophthalmologists who see patients with the gene mutations we are studying. Having meaningful discussions with ophthalmologists across the field helps us gain insights  we could not make on our own.” 

AESC prides itself on being a supportive environment where ophthalmologists can further the field through active member participation and open discussions about sometimes controversial issues. Many members have become leaders serving as president of the American Academy of Ophthalmology, director of the American Board of Ophthalmology, and chairs of university departments. Organized social events for members and their families foster a sense of community that makes AESC truly unique.

This year's meeting was held at the Montage Deer Valley Resort in Park City, Utah.

Caption: AESC members from the class of 2011:  Michael Chiang (left), Vinit Mahajan (center), Aaron Weingeist (right).