Content area
Full Text
Familial Cancer (2005) 4: 4347 Springer 2005
DOI 10.1007/s10689-004-1327-0ReviewOphthalmological manifestations in VHL and NF 1: pathological and diagnostic
implicationsKlaus-Martin Kreusel
Augenklinik Berlin-Marzahn, Berlin, GermanyReceived 24 January 2004; accepted in revised form 23 February 2004Key words: eye, Lisch nodule, NF 1, neurobroma, neurobromatosis, optic glioma, orbital tumors, retina, retinal
angioma, von HippelLindau diseaseAbstractVon HippelLindau disease (VHL) and neurobromatosis type 1 (NF 1) are hereditary multitumor syndromes that
show associated ocular manifestations. Capillary retinal angioma, a benign vascular tumor, is the classical ocular
lesion in VHL. It often appears as the rst manifestation of the disease and may thus lead to the diagnosis of VHL.
Since small angiomas can be treated easily by laser photocoagulation, a regular ocular screening of VHL patients is
recommended. Ocular manifestations of NF 1 are more diverse as compared to VHL. Lisch nodules of the iris are
an important diagnostic criteria of NF 1 since they can be found in almost every affected patient. Optic glioma can
occur both intraorbitally and intracranially. The intraorbital form causes progressive protrusion of the globe and
eventually blindness. Extension of the tumor beyond the chiasm worsens the prognosis quoad vitam. The hallmark
of NF 1, namely cutaneous neurobroma can cause visual impairment when aecting the skin of the eyelids. The
rare intraorbital pexiform neurobroma is associated with abnormal development of the orbital bones and infantile
glaucoma. It may result in orbital mass eects and therefore may need surgical excision.Von HippelLindau disease (VHL)The ocular hallmark of VHL disease is retinal capillary
angioma, which is also named hemangioma or hemangioblastoma. Early descriptions of this benign vascular
retinal tumor date back to the publication of Eugen von
Hippel (18671939) [1]. In 1911 he coined the term
angiomatosis retinae when describing the vascular
nature of the lesion [2]. Earlier reports describing partial
aspects of these tumors were given by Fuchs [3], Wood[4] and Collins [5]. Collins was the rst to describe the
hereditary nature of the disease. In reference to Eugen
von Hippel capillary retinal angioma is also named von
Hippel tumor.Capillary retinal angioma commonly occurs in individuals affected by VHL disease and less frequently as a
sporadic tumor [6, 7]. In case of underlying VHL
disease, retinal angioma is often multifocal and bilateral[8]. In the majority of VHL patients...