Waardenburg syndrome (WS) is a rare, autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary disturbances of the skin, hair, and iris, and other developmental defects such as lateral displacement of both medial canthi and lacrimal puncta called dystopia canthorum. While mutations of the PAX3 (paired box) gene have been identified in about 99% of WS type 1 cases, WS type 2 is a heterogeneous group, with about 15% of cases caused by mutations in microphthalmia associated transcription factor (MITF). We have experienced three cases of typical WS type 2 in a Korean family, for whom full ocular examination and genetic studies were performed. The genetic studies revealed no mutation in either PAX3 or MITF genes. The genetic basis, as yet unknown for most cases of WS type 2, might be found with further investigation.

We compared clinical outcomes including recurrence rate between amniotic membrane transplantation (AMT) and conjunctival autograft using fibrin glue and minimal conjunctival sutures for pterygium surgery. Methods: We retrospectively analyzed 217 eyes of 198 patients with pterygia who underwent surgery from May 2016 to December 2019. Pterygium excision was performed with conjunctival autograft or AMT, using fibrin glue with both. Recurrence rates and complications were evaluated between the two groups. Results: Postoperative recurrences were noted in one of 185 eyes (0.5%) in the conjunctival autograft group, and in six of 32 eyes (18.8%) in the AMT group. The recurrence rate was significantly lower in the conjunctival autograft group (p < 0.001). Logistic regression analysis revealed that conjunctival autograft was associated with a significantly lower risk of pterygium recurrence compared to AMT (odds ratio, 0.023; 95% confidence interval, 0.003-0.206; p = 0.001). No ocular complication was noted in both groups during follow-up. Conclusions: Pterygium excision with conjunctival autograft using fibrin glue was more effective in preventing recurrence compared to AMT.