December 1, 2011

Wilmer faculty, led by John Gottsch M.D., have discovered a mutation in a micro RNA called miR-184 which is responsible for the EDICT syndrome. EDICT, described by Dr. Gottsch and his colleagues several years ago, stands for endothelial dystrophy, iris hypoplasia, cataract and stromal thinning. The condition severely affects vision by causing corneal clouding and cataract. This is only the second mutation reported in a micro RNA causing a hereditary disease. 

The paper was recently accepted for publication in Investigative Ophthalmology and Visual Sciences. Read the full version here.