Stepwise treatment stratagem of young patient with Reis–Bücklers corneal dystrophy: A case report

Background: Reis–Bücklers corneal dystrophy (RBCD) is a rare, early-onset corneal dystrophy caused by mutations in the transforming growth factor β-induced (TGFBI) gene. It is characterized by the deposition of hyaline-like material in the Bowman’s layer, resulting in recurrent corneal epithelial erosion and progressive subepithelial corneal opacity. Case presentation: We report the long-term follow-up results of children with RBCD who developed the condition in early childhood, tracking them from 3 through13 years of age. For epithelial detachment in early infancy, we controlled corneal epithelial defects using a combination of disposable soft contact lenses (DSCL) and hard contact lenses (HCL), along with anti-inflammatory and lubricating eye drops. Concurrent amblyopia treatment achieved good visual acuity. Furthermore, during this treatment course, we confirmed that performing curettage of the erosive base at the onset of recurrence enabled removal of deposits, improved transparency, and reduced the frequency of epithelial erosion occurrence. Subsequently, as corneal opacity progressed at age 13 years, additional treatment with corneal electrolysis proved effective. Thus, stepwise treatment from early to mid-infancy contributed to maintaining good visual acuity. Based on the course of this case, we suggest a treatment strategy for patients with RBCD during early childhood and school age. Conclusions: Given the need for long-term management, we propose a stepwise treatment strategy based on disease stage, patient age group, amblyopia prevention, and psychological burden, aimed at maintaining visual acuity throughout childhood.