Walsh & Hoyt: Diagnosis

The diagnosis of VHLD is hampered by its clinical variability and the different ages at which its features become symptomatic or can be detected. It is very unusual for a patient to manifest the entire syndrome when he or she is initially examined. Retinal lesions are generally identified before hemangioblastomas of the CNS, and hemangioblastomas often precede recognition of visceral tumors. In addition, the retinal lesions may be missed if indirect ophthalmoscopy is not used to examine the fundi. Asymptomatic lesions of VHLD in the CNS as well as in the abdominal organs are identified by imaging procedures, particularly contrast-enhanced MR imaging. However, even patients with no evidence of an intracranial, retinal, or abdominal lesion by imaging can develop such lesions later in life.