Journal Article

Biological pathways leading to septo-optic dysplasia: a review

Pasca, Ludovica, Borgatti, Renato, Valente, Enza Maria, Politano, Davide, Signorini, Sabrina, Garau, Jessica, Romaniello, Romina, Morelli, Federica

2025

Overview

Background The precise etiology of septo-optic dysplasia (SOD) remains elusive, to date a complex interaction between genetic predisposition and prenatal exposure to environmental factors is believed to come into play. Being SOD such a heterogeneous condition, disruption of many developmental steps in the early forebrain development might occur. The knowledge of genes possibly determining SOD phenotype should be improved, therefore in this review the authors attempt to highlight the genetic pathways and genes related to this clinical condition. Main body Literature search was conducted and updated in November 2023, using PubMed and Google Scholar to identify primary research articles or case reports with available full text using the following search string “case reports,” “humans,” “septo-optic dysplasia,” “optic nerve hypoplasia,” with a recognized genetic diagnosis. Moreover, a review of genetic pathways with an involvement in SOD etiology was conducted. This review thus represents the authors’ perspective based on selected literature. The several pathways presented might be already associated to other disease phenotypes and interplay with genes and pathways known to have a role in SOD determination. Those pathways may converge and thus, the implicated genes may function as cascading regulators at multiple levels. Conclusion The present data suggest that genes other than HESX1, SOX2, SOX3 , and OTX2 might be investigated in candidate individuals with a clinical diagnosis of SOD corresponding to the presence of at least two diagnostic criteria, particularly in the presence of additional syndromic anomalies.

• Publisher: BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
• Subject: Abnormalities / Age / Anencephaly / Anopheles / Brain / Case reports / Congenital diseases / Convulsions & seizures / Development and progression / Diagnosis / Dysplasia / Environmental factors / Epilepsy / Etiology / Fetuses / Forebrain / Gene expression / Gene mutations / Genes / Genetic aspects / Genetic pathways / Genetic screening / Health aspects / Human Genetics / Humans / Hypoglycemia / Hypoplasia / Hypotheses / Intellectual disabilities / Medical research / Medicine / Medicine & Public Health / Medicine, Experimental / Optic nerve / Otx2 protein / Pharmacology/Toxicology / Phenotypes / Pituitary gland / Pregnancy / Pregnant women / Prenatal experience / Prenatal exposure / Rare disease / Rare diseases / Review / Septo-optic dysplasia / Septo-Optic Dysplasia - genetics / Septo-Optic Dysplasia - metabolism / Septum (Brain) / SOD plus / Transcription factors / Visual impairment