A Novel Decorin Gene Mutation in Congenital Hereditary Stromal Dystrophy: A Korean Family

Congenital hereditary stromal dystrophy (CHSD) of the cornea is a rare disease inherited in an autosomal domi-nant fashion. Minute stromal opacity of the cornea results in a gradual decrease in vision; nevertheless, this disorder is considered to be unrelated to abnormal architecture and function of endothelial cells. Previous reports [1,2] of CHSD have involved a deletion of the decorin gene (c.941delC124, c.967delT83) located on chromosome 12q22. Decorin proteins consisting of dermatan sulfate proteo-glycans play a role in lamellar adhesion of collagens and control regular fibril-fibril spacing observed in the cornea, which contribute to corneal transparency. Therefore, this deletion of the decorin gene results in an abnormal protein formation of collagen fibrils. Corneal opacities can occur from disturbances in fibrillogenesis because corneal trans-parency depends on a regular arrangement of fibers. In this study, we reported different aspects of CHSD structure and genetics in a patient diagnosed with CHSD who underwent penetrating keratoplasty, and we also conducted genetic evaluations for himself and his family members. Case Report A 43-year-old man presented with a progressive deterio-ration of visual function for the previous seven years. The patient had no other ocular symptoms such as nystagmus or photophobia. His past history showed stable vision of 20 / 40 since trauma to his right eye when he was approxi-mately 14 years of age. No other systemic abnormalities or malformations were recorded. His best-corrected vision was 20 / 400 in the right eye and 20 / 20 in the left, and his intraocular pressures were 25 mmHg in the right eye and 23 mmHg in the left eye at the time of his initial visit. Under slit lamp examination, a diffuse haze composed o