FEVR phenotype associated with septo-optic dysplasia

Abstract

Background: Septo-optic dysplasia, also known as de Morsier syndrome, is a disorder of brain development characterized by optic nerve hypoplasia, hypopituitarism, and midline brain defects.Materials and Methods: Single retrospective case report.Results: An infant born at 38 5/7 weeks gestation age weighing 3125 g developed respiratory distress shortly after birth. Systemic findings included myocardial dysfunction, hypopituitarism, feeding intolerance, microphallus, and dysmorphic features. Eye examination revealed tractional retinal detachments and optic nerve hypoplasia. In addition, peripheral non-perfusion and peripheral neovascularization were consistent with Familial Exudative Vitreoretinopathy (FEVR) phenotype. MRI showed hypoplastic optic nerves, ectopic posterior pituitary with hypoplastic pituitary infundibulum, and slightly thin corpus callosum, diagnostic of septo-optic dysplasia. Genetic testing revealed no pathogenic variants and two variants of uncertain significance.Conclusion: FEVR findings can be associated with septo-optic dysplasia and may point to an etiologic connection between neural development and subsequent vascular development.

Keywords: FEVR; Septo-optic dysplasia; optic nerve hypoplasia; peripheral nonperfusion; variants of uncertain significance.