Bilateral Retinal Detachment after prophylactic laser therapy in Knobloch Syndrome.

PURPOSE: Knobloch Syndrome (COL18A1-related) is a rare inherited vitreoretinopathy characterized by early-onset high myopia, regmatogenous retinal detachment and occipital skull and cutaneous defects. Although prophylactic retinal procedures have been proposed for related vitreoretinopathies, data supporting their use in Knobloch syndrome is scarce.

METHODS

Case Report.

RESULTS

An 8-year-old girl with genetically confirmed Knobloch syndrome who developed bilateral rhegmatogenous retinal detachment seven days after prophylactic laser therapy performed in a single-session bilaterally. Ultrawide-field retinography revealed bilateral inferotemporal retinal detachment associated with peripheral punched-out lesions. The patient underwent prompt sequential scleral buckle surgery with cryopexy and subretinal fluid drainage as indicated. Both retinas were successfully reattached and visual acuity returned to baseline values in the early postoperative period.

CONCLUSION

This case highlights limited evidence supporting laser prophylaxis in Knobloch syndrome and the importance of cautious, individualized decision-making as well as the need for further research to recommend for or against prophylaxis in this syndrome.