Unveiling rarity: Ocular manifestations of recessive dystrophic epidermolysis bullosa (RDEB) syndrome with localized corneal edema

Abstract

This case report illustrates the ocular manifestations of recessive dystrophic epidermolysis bullosa (RDEB) syndrome in a 7-year-old boy from Bangladesh. During his overall examination, the boy exhibited active and chronic bullous lesions associated with black eschar throughout his body. In addition, he presented dental abnormalities, tooth decay, nail dystrophy, and the absence of nails on his fingers and toes. His ocular presentation included localized corneal edema extending from the subepithelium to Descemet’s membrane and blistering of the eyelids, which spared the corneal epithelium and the conjunctiva. We treated the lesion successfully using topical loteprednol and artificial tear (carboxymethyl cellulose) eye drops, resulting in an excellent outcome.