Macular corneal dystrophy

Macular corneal dystrophy, also known as Fehr corneal dystrophy, is a rare genetic disorder affecting the stroma of the cornea, first described by Arthur Groenouw in 1890. It is an autosomal recessive condition caused by mutations in the carbohydrate sulfotransferase gene CHST6, which lead to the production of abnormal proteins and the accumulation of abnormal glycosaminoglycans within the corneal epithelium and stroma. This accumulation causes progressive clouding, or opacification, of the cornea and a gradual loss of visual acuity, with initial signs typically appearing during the first decade of life. The disease is managed within ophthalmology, and its progressive vision loss and corneal pain frequently make corneal transplant surgery necessary later in life.