Optic Nerve Hypoplasia Plus: A New Way of Looking at Septo-Optic Dysplasia

Abstract

Septo-optic dysplasia (SOD) is a rare congenital disorder that affects 1/10,000 live births. At its core, SOD is a disorder resulting from improper embryological development of mid-line brain structures. To date, there is no comprehensive understanding of the etiology of SOD. Currently, SOD is diagnosed based on the presence of at least two of the following three factors: (i) optic nerve hypoplasia (ii) improper pituitary gland development and endocrine dysfunction and (iii) mid-line brain defects, including agenesis of the septum pellucidum and/or corpus callosum. A literature review of existing research on the disorder was conducted. The medical history and genetic data of 6 patients diagnosed with SOD were reviewed to find damaging variants. Novel mutations were found in the sequencing data in 3 of the 6 patients. I also realized that the diagnostic criteria for SOD tend to be inconsistent and I have recommended a reorganization to focus on the optic nerve hypoplasia as the central factor of the disorder. I will be writing up my findings to submit for review and potential publication in the journal Pediatric Neurology. The clinic will be pursuing further molecular studies to understand if these mutations are causes of the disorder.