Clinical and Molecular Genetic Aspects of Optic Nerve Hypoplasia

Abstract

AbstractOptic Nerve Hypoplasia is one of the leading causes of childhood blindness in the USA, with estimated incidence of 1/10,000 live births. It is characterized by a subnormal number of optic nerve axons with preserved blood vessels and glial tissue support. It is congenital and non‐progressive. The speaker will present clinical data on More than 100 patients from a pediatric clinic and will review the associated neurological and systemic problems in these patients. A review of underlying molecular genetic, pathogenetic mechanisms and environmental factors will also be given. Optic nerve hypoplasia is an important cause of irreversible blindness. It is undoubtedly a heterogeneous group of conditions. Environmental causes play an important role in its etiology and associated conditions are numerous. Endocrinologic complications are treatable and neurological problems need to be identified and addressed. Studies are underway to identify genetic causes and to provide guidelines for prevention and management.