Visual Rehabilitation in Laryngo-Onycho-Cutaneous (LOC) Syndrome

Background: Laryngo-onycho-cutaneous syndrome (LOC) is a sub type of Junctional Epidermolysis Bullosa (JEB). Patients, who are mostly from the Punjabi Muslim population, exhibit a homozygous recessive mutation in the LAMA3 gene with subsequent N-terminal deletion of the laminin α3a isoform. Ocular involvement with extensive granulation tissues often results in intractable blindness early in life. Case report: A male Punjabi patient suffered from a LOC syndrome and subsequent progressive ocular surface disease. At the age of one, he presented with bilateral symblephara. Repeated excision of granulation tissues managed to keep his central cornea clear for a considerable period of time. Different immunosuppressant agents were tried to stop recurrence followed by three amniotic membrane grafts with no long term success. At the age of 19, patient had osteo-odonto-keratoprosthesis (OOKP) surgery done for his left eye, which successfully restored his vision to 6/9. Conclusion: We are reporting the first patient with LOC syndrome who had his vision successfully restored following surgical intervention. OOKP remains the last resort for visual rehabilitations in cases with severe dry eyes where all other surgeries doomed to fail. We recommend a combined approach for patients with LOC syndrome, which involves early granulation tissues debridement and ocular surface reconstruction, which can be repeated as needed, to be followed by OOKP surgery at the age of 18. Surgical care of these patients should be done in one of the specialist centres, where complexity of such cases could be handled, and patients should be counselled on the need for life-long follow up.