Phenotypes of a family with inheritory Reis-Bucklers corneal dystrophy

Objective To analyze the clinical features of genotypes in a family with Reis-Bucklers corneal dystrophy (RBCD) associated with mutations in human transforming growth factor-β (TGF-β) gene. Methods Fourteen members of a family (9 patients and 5 normal subject) in Sanya City, Hainan Province, China, were recruited in this study in July 2013. They underwent visual acuity test, intraocular pressure measurement, corneal sensitivity test, anterior segment slit lamp examination, fundus examination, and tear secretion examination. Their clinical phenotype data were analyzed. Exons 1-16 in TGF-β gene were detected by PCR and mutations in TGF-β gene were identifed by direct sequencing. Results Nine patients (6 males and 3 females) in the family were diagnosed with RBCD which occurred at the age of 1-10 years (3.67±0.90 years). The initial symptoms of RBCD were photophobia and ophthalmalgia. The visual acuity began to reduce in the patients at the age of 6-13 years (8.00±0.78 years). The RBCD was manifested as map-like defect of corneal epithelium, isolated island-like degeneration opacity of superfcial stroma, rustlike pigmentation in superfcial cornea, edema in deeper corneal stroma, weakened or disappeared cornea sensitivity. Conclusion The mutation p. R124L (c. 418G> T) in TGF-β gene can cause phenotype heterogeneity in RBCD patients, including map-like defect of corneal epithelium, local projection and opacity due to superfcial erosion of cornea, rust-like pigmentation in superfcial cornea, and edema involving the whole corneal stroma.