Inherited vascular disorders

Peripheral avascularity of the retina at birth that is not related to prematurity is a nonspecific finding that can occur in a variety of syndromes or in isolation. The majority of these conditions are hereditary (autosomal dominant, autosomal recessive, X-linked recessive, and X-linked dominant). A thorough review of systems and evaluation by a clinical geneticist is warranted. This is particularly important for newly diagnosed cases, even in the absence of a family history, as many of these conditions can manifest a high degree of intra-familial variability. Eye examinations should be performed on parents and siblings and may require intravenous fluorescein angiography (IVFA) to evaluate for subtle manifestations of the disease. The corroboration of disease manifestations in relatives portends management implications in both patients and affected family members and enhances the accuracy of genetic counseling for families at risk of having future affected children. Genetic testing should be offered based on the clinical presentation to confirm the diagnosis and identify relatives at risk. The management including interval surveillance and decision to treat is predominantly based on age of the patient, extent and severity of the disease, and the presence of complications.