Its clinical manifestations include cerebellar and retinal hemangioblastomas, pancreatic cysts, renal cell carcinoma and pheochromocytoma. Von Hippel-Lindau (VHL) syndrome is transmitted as an autosomal-dominant trait with variable penetrance. These patients have renal hypoplasia, with or without renal failure. The association of ocular coloboma with urinary anomalies may evoke a renal-coloboma or papillorenal syndrome, with coloboma involving the optic disc and adjacent retina. 10,11 Other ocular signs may also develop, such as cataracts, glaucoma and nystagmus. 10 Patients with Wilms tumor are at an increased risk for developing ocular disorders, including aniridia and, less frequently, optic nerve hypoplasia resulting from inactivation of the aniridia gene Pa圆. People with WAGR syndrome have a 45% to 60% chance of developing Wilms tumor, a rare form of kidney cancer that is most often diagnosed in children. Most people with WAGR syndrome have aniridia, typically the first noticeable sign. WAGR syndrome affects several body systems and is named for its main features: Wilms tumor, aniridia, genitourinary anomalies and intellectual disability (formerly referred to as mental retardation). A variety of human congenital oculorenal syndromes affecting both the eye and the kidney have been described. 8 Therefore, any deficits in embryogenesis during this time frame can cause anatomic and functional abnormalities in the two organs. Interestingly, the period of organogenesis for both the eyes and the kidneys spans the fourth to sixth weeks of gestation. Here, we will give you a clinical look at the eye in renal disease. A local RAAS and its components have been detected in many structures of the human eye, from a possible role in aqueous humor dynamics and intraocular pressure to retinal vascular implications in hypertension and diabetes. These local regulatory systems, such as the one present in the retinal vascular endothelium, are responsible for physiologic changes. In addition to the systemic RAAS, tissue-specific regulatory systems have been described in various organs, including the eye. Through these mechanisms, the body can elevate the blood pressure in a prolonged manner. Renin, angiotensin II and aldosterone act to elevate arterial pressure in response to decreased renal blood pressure, decreased salt delivery to the distal convoluted tubule and/or beta-agonism. This system is an important regulator of blood volume and systemic vascular resistance. The renin–angiotensin–aldosterone system (RAAS) is found in both the kidney and in various ocular tissues. Both the glomerulus and choroid have vascular networks that are similar in structure. The eye and the kidney share developmental, physiological and pathogenic pathways. While optometrists would be unlikely to identify kidney disease through an eye exam alone, when we do encounter a patient with a known history of kidney disease or one of the oculorenal syndromes, we need to be vigilant for the ocular manifestations. Early detection, diagnosis and treatment of both the ocular manifestations and the underlying systemic condition can lead to improved visual outcomes and a reduction in severe health complications and morbidity. Systemic processes can impact virtually every ocular tissue, as well as the orbit and visual pathway. Every optometrist has stories of patients whose systemic disease(s) was only diagnosed after the onset of ocular symptoms and signs.
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