Purpose of review: Oculoplastic genetic diseases can be divided into eyelid, lacrimal, and orbital disorders. The purpose of this review is to develop a rational approach to the categorization of genetic diseases that affect the orbit and review the most recent developments.
Recent findings: Genetic disorders that affect the orbit can simply be divided into whether they cause proliferation or arrest of orbital structures. Proliferative conditions include vascular, neural, bony, mesenchymal, and lymphoid. Conditions that cause arrest can be subcategorized into whether they cause soft tissue or bony arrest of development. The genetics of many of these conditions have been elucidated and novel treatments, based on the molecular defects, have been utilized with some success.
Summary: Molecular advances may result in substitution of a molecular categorization scheme for the one proposed in this manuscript. Delineation of the underlying molecular causes of these disorders will result in earlier, less invasive procedures than those that are currently employed.