Autosomal dominant recurrent erosions – from non‐existing to being everywhere

Abstract

Abstract Purpose: To describe phenotypes of autosomal dominantly inherited corneal dystrophies characterized by recurrent corneal erosions in Sweden. Methods: We have presented data about families with autosomal dominantly inherited recurrent erosions at national meetings in Sweden for 5 years and urged colleagues to report their existence to us. Their reports have led us to investigate several families. Interviews and clinical examinations were made to establish a pedigree and the specific phenotype for each family. Results: Five families with more than fifty members have been found. The largest was a seven‐generation family with 342 members. Another 12 smaller families have been identified. Altogether 870 family members of whom 202 were affected were included. The families originated from all parts of Sweden and one also included members in Finland.The phenotypes vary. For example, the onset were usually at the age of 4‐6 years, but in one family before 12 months of age. Also corneal opacifications of varying type and degree were found. In one family opacifications were first noted at the age of about 7 years, but usually first seen at the age of 20‐40 years.Vitamin B complex treatment was effectively employed to reduce symptoms and number of recurrences in a family with 175 members. In another family phototherapeutic keratectomy (PTK) cured the recurrent erosions. In yet other families neither vitamin B supplementation nor PTK has been the cure when tried. Conclusions: It seems that inherited recurrent erosions are more common in Sweden than was first believed. Phenotypically it appears to be several different corneal diseases.The ongoing molecular genetic work‐up will disclose if several genes are involved and/or several mutations in one or more genes.