Traboulsi syndrome, a rare cause of ectopia lentis

Traboulsi syndrome (TS) is a rare genetic disorder caused by variants in the aspartate beta-hydroxylase (ASPH) gene, which is vital in lens development. Salient features are facial dysmorphism, ectopic lens (EL), and spontaneous filtering blebs. Till date, only 47 cases have been reported globally, including nine from India. We describe a 26-year-old male with genetically confirmed TS (pathogenic variant in the ASPH gene), which we believe is the first instance from Kerala. He had bilateral EL managed successfully by lens removal and secondary Intraocular lens implantation. Genetic testing was crucial in his diagnosis and helped to correlate the variants with his phenotype. Ophthalmologists should be aware of this under-recognized cause of EL and should include genetic study in the management protocol.