Glaucoma in a patient with Singleton-Merten syndrome

A 2-year-old girl presented for evaluation of glaucoma suspect status. Despite her lack of buphthalmia, her clear corneas, and absence of Haab's striae, she was found to have an intraocular pressure of 45 mm Hg in the right eye and 47 mm Hg in the left eye and significant optic nerve cupping. Both eyes were initially treated with goniotomies, trabeculotomies, and later Baerveldt glaucoma implants. She was diagnosed with Singleton-Merten syndrome from a DDX58 pathogenic variant, with congenital glaucoma, juvenile progressive high myopia, hypoplastic nails, and abnormal dentition.