Purpose: To describe a Chinese patient with Marfan syndrome who had a unique phenotype and a recurrent mutation in the fibrillin-1 (FBN1) gene.
Case and methods: A 31-year-old man who had a spontaneous bilateral lens dislocation into the vitreous cavity in childhood was found to have retinal and choroidal detachments in both eyes. A congenital atrial septal defect was detected. Pars plana vitrectomy, lensectomy, and silicone oil tamponade were performed on his right eye. Genomic DNA was extracted from leukocytes of peripheral blood, and the 65 exons and flanking intronic sequences of the FBN1 gene were amplified by polymerase chain reaction for mutational screening.
Results: A recurrent mutation, c.364C>T was detected in exon 4 that resulted in p.Arg122Cys. The visual acuity of the right eye improved to 6/60 one year after the surgeries.
Conclusion: DNA screening helps in the diagnosis of Marfan syndrome with unique phenotypes. The mutation c.364C>T can be considered to be a hotspot for Marfan patients with predominant ectopia lentis.