Recurrent corneal erosions – studies of an autosomal dominant inherited corneal dystrophy

Abstract

Abstract: : Purpose:To describe the phenotype and preliminary genetic work–up in a family with autosomal dominant recurrent corneal erosions. Methods:A six–generation pedigree could be constructed including 242 family members following interviews. A total of 78 were affected of whom 37 are alive. Both affected and unaffected family members were clinically examined. Preliminary molecular genetic studies were made with polymorphic markers for loci surrounding (four patients) known autosomal dominant corneal dystrophy genes: TGFB1, GSN, KRT3 and KRT12. Results:Family members usually first presented at about the age five to six years with recurrent corneal erosions after a minor corneal trauma. The episodes of corneal erosions were accompanied with the acute onset of symptoms such as intensive ocular pain, malaise, reduced visual acuity, photophobia and a preference for a silent environment, i.e. a dark, silent room. The disease often was so severe that the family members experienced loss of appetite and developed speech problems. The intense phase of the attacks had a duration of three days and the symptoms subsided within a week. Treatment with ointments gave no or minor relief. Precipitating factors were upper respiratory tract infections, dry air, draught or lack of sleep. Females had a higher risk of an attack just before menstruation. The frequency of the attacks tended to decline in the mid–twenties. Family members experienced dry eye symptoms between attacks. No genetic linkages were found to currently known genes causing corneal dystrophies. Conclusions:We present a, to our knowledge, not previously described corneal dystrophy, with no genetic linkage to known genes causing corneal dystrophies.

Keywords: cornea: clinical science • genetics • wound healing