March 26, 2024
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VIDEO: Research focuses on non-coding mutations in North Carolina macular dystrophy
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WAILEA, Hawaii — In this Healio Video Perspective from Retina 2024, Kent W. Small, MD, discusses research exploring non-coding mutations in North Carolina macular dystrophy.
A database includes information on 423 subjects from 59 families.
“Our data continues to support our earlier findings in that we have more families with the same mutations,” Small said. “We also have several new families with new mutations scattered throughout the world.”
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Source:
Small KW, et al. North Carolina macular dystrophy (NCMD/MCDR1): A model disease of non-coding mutations. Analysis of our entire database, a culmination of 37 years of work. Presented at: Retina 2024; Jan. 13-19, 2024; Wailea, Hawaii.
Disclosures:
Small reports having a patent for this research.
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