Abstract
Von Hippel–Lindau disease (VHL) and neurofibromatosis 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 first 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 neurofibroma can cause visual impairment when affecting the skin of the eyelids. The rare intraorbital pexiform neurofibroma is associated with abnormal development of the orbital bones and infantile glaucoma. It may result in orbital mass effects and therefore may need surgical excision.
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References
E. Hippel Particlevon (1904) ArticleTitleÜber eine sehr seltene Erkrankung der Netzhaut Arch Ophthalmol 59 83–6
E. Hippel Particlevon (1911) ArticleTitleDie.anatomische Grundlage der von mir beschriebenen sehr seltenen Erkrankung der Netzhaut Albrecht von Graefes Arch Ophthalmal 79 350–77
E. Fuchs (1882) ArticleTitleAneurysma arterio-venosum retinae Arch Augenh 11 440
DJ. Wood (1892) ArticleTitleRetinal detachment with unusual dilatation of retinal vessels and other changes Trans Ophthalmol Soc UK 12 143
ET. Collins (1894) ArticleTitleIntra-Ocular Growths. I. Two cases, brother and sister, with peculiar vascular new growth, probably primarily retinal, affecting both eyes Trans Ophthalmol Soc UK 14 141
HP Neumann OD. Wiestler (1991) ArticleTitleClustering of features of von Hippel–Lindau syndrome: evidence for a complex genetic locus Lancet 337 1052–4 Occurrence Handle10.1016/0140-6736(91)91705-Y Occurrence Handle1:STN:280:By6B3M7ltVA%3D Occurrence Handle1673491
AR Webster ER Maher AC Bird et al. (1999) ArticleTitleA clinical and molecular genetic analysis of solitary ocular angioma Ophthalmology 106 623–9 Occurrence Handle10.1016/S0161-6420(99)90127-6 Occurrence Handle1:STN:280:DyaK1M7nvVeisg%3D%3D Occurrence Handle10080225
KM Kreusel NE Bechrakis T Heinichen et al. (2000) ArticleTitleRetinal angiomatosis and von Hippel–Lindau disease Graefes Arch Clin Exp Ophthalmol 238 916–21 Occurrence Handle10.1007/s004170000200 Occurrence Handle1:CAS:528:DC%2BD3MXislantQ%3D%3D Occurrence Handle11148816
WA Horton V Wong R. Eldridge (1976) ArticleTitleVon Hippel–Lindau disease: clinical and pathological manifestations in nine families with 50 affected members Arch Intern Med 136 769–77 Occurrence Handle10.1001/archinte.136.7.769 Occurrence Handle1:STN:280:CSmB3s%2FmslY%3D Occurrence Handle945722
JM Lamiell FG Salazar YE. Hsia (1989) ArticleTitleVon Hippel–Lindau disease affecting 43 members of a single kindred Med Baltimore 68 1–29 Occurrence Handle1:STN:280:BiaD1c3jtFc%3D
ER Maher JR Yates R Harries et al. (1990) ArticleTitleClinical features and natural history of von Hippel–Lindau disease Q J Med 77 1151–63 Occurrence Handle1:STN:280:By6C3M%2Foslc%3D Occurrence Handle2274658
DH Nicholson WR Green KR. Kenyon (1976) ArticleTitleLight and electron microscopic study of early lesions in angiomatosis retinae Am J Ophthalmol 82 193–204 Occurrence Handle1:STN:280:CSmB2M%2FktlE%3D Occurrence Handle986118
KM Kreusel NE Bechrakis HP Neumann MH. Foerster (2003) ArticleTitleA sporadic case of von Hippel–Lindau disease with a secondary maculopathy as the presenting sign Acta Ophthalmol Scand 81 309–10 Occurrence Handle10.1034/j.1600-0420.2003.00034.x Occurrence Handle12780414
AR Webster ER Maher AT. Moore (1999) ArticleTitleClinical characteristics of ocular angiomatosis in von Hippel–Lindau disease and correlation with germline mutation Arch Ophthalmol 117 371–8 Occurrence Handle1:STN:280:DyaK1M7os1KktQ%3D%3D Occurrence Handle10088816
JD Gass R. Braunstein (1980) ArticleTitleSessile and exophytic capillary angiomas of the juxtapapillary retina and optic nerve head Arch Ophthalmol 98 1790–7 Occurrence Handle1:STN:280:Bi6D3sfltlY%3D Occurrence Handle7425905
CM McCabe HW Flynn SuffixJr CL Shields (2000) ArticleTitleJuxtapapillary capillary hemangiomas Clinical features and visual acuity outcomes Ophthalmology 107 2240–8 Occurrence Handle10.1016/S0161-6420(00)00422-X Occurrence Handle1:STN:280:DC%2BD3M%2FmsF2isQ%3D%3D Occurrence Handle11097604
D Schmidt HP. Neumann (1995) ArticleTitleRetinal vascular hamartoma in von Hippel–Lindau disease Arch Ophthalmol 113 1163–7 Occurrence Handle1:STN:280:ByqA1M%2FosFE%3D Occurrence Handle7661750
M Ridley J Green G. Johnson (1986) ArticleTitleRetinal angiomatosis: the ocular manifestations of von Hippel–Lindau disease Can J Ophthalmol 21 276–83 Occurrence Handle1:STN:280:BiiC3c3jsFc%3D Occurrence Handle3801976
FG Salazar JM. Lamiell (1980) ArticleTitleEarly identification of retinal angiomas in a large kindred von Hippel–Lindau disease Am J Ophthalmol 89 540–5 Occurrence Handle1:STN:280:Bi%2BC2s3nt1w%3D Occurrence Handle7369317
D Wittebol-Post FJ Hes CJ. Lips (1998) ArticleTitleThe eye in von Hippel–Lindau disease Long-term follow-up of screening and treatment: recommendations J Intern Med 243 555–61 Occurrence Handle10.1046/j.1365-2796.1998.00338.x Occurrence Handle1:STN:280:DyaK1czksFWrsQ%3D%3D Occurrence Handle9681858
Jennings AM, Smith C, Cole DR etal. Von Hippel–Lindau disease in a large British family: clinicopathological features and recommendations for screening and follow-up. Q J Med. 66: 233–49
MF Goldberg S. Koenig (1974) ArticleTitleArgon laser treatment of von Hippel–Lindau retinal angiomas. I. Clinical and angiographic findings Arch Ophthalmol 92 121–5 Occurrence Handle1:STN:280:CSuB1cbptlQ%3D Occurrence Handle4858803
D Schmidt E Natt HP. Neumann (2000) ArticleTitleLong-term results of laser treatment for retinal angiomatosis in von Hippel–Lindau disease Eur J Med Res 5 47–58 Occurrence Handle1:STN:280:DC%2BD3c3gtlCmug%3D%3D Occurrence Handle10720563
RB. Welch (1970) ArticleTitleVon Hippel–Lindau disease: the recognition and treatment of early angiomatosis retinae and the use of cryosurgery as an adjunct to therapy Trans Am Ophthalmol Soc 68 367–424 Occurrence Handle1:STN:280:CS2D1cfjsFY%3D Occurrence Handle5535648
KM Kreusel N Bornfeld A Lommatzsch et al. (1998) ArticleTitleRuthenium-106 brachytherapy for peripheral retinal capillary hemangioma Ophthalmology 105 1386–92 Occurrence Handle10.1016/S0161-6420(98)98017-4 Occurrence Handle1:STN:280:DyaK1cznsFCkug%3D%3D Occurrence Handle9709747
HR McDonald H Schatz RN Johnson et al. (1996) ArticleTitleVitrectomy in eyes with peripheral retinal angioma associated with traction macular detachment Ophthalmology 103 329–35 Occurrence Handle1:STN:280:BymC2s3pslE%3D Occurrence Handle8594522
DA Mulholland PB Johnston JA. Sharkey (1996) ArticleTitlePars plana vitrectomy in von Hippel Lindau disease Eye 10 758–9 Occurrence Handle9091382
I Kremer E Gilad I. Ben-Sira (1988) ArticleTitleJuxtapapillary exophytic retinal capillary hemangioma treated by yellow krypton (568 nm) laser photocoagulation Ophthalmic Surg 19 743–7 Occurrence Handle1:STN:280:BiaD2MjjtVM%3D Occurrence Handle3194109
JD Palmer ES. Gragoudas (1977) ArticleTitleAdvances in treatment of retinal angiomas Ophthalmol Clin 37 159–70
J Garcia-Arumi LH Sararols L Cavero et al. (2000) ArticleTitleTherapeutic options for capillary papillary hemangiomas Ophthalmology 107 48–54 Occurrence Handle10.1016/S0161-6420(99)00018-4 Occurrence Handle1:STN:280:DC%2BD3c7ht1antg%3D%3D Occurrence Handle10647718
BR. Korf (1996) ArticleTitleOphthalmological issues in the neurofibromatoses J Pediatr Ophthalmol Strabismus 33 255–9 Occurrence Handle1:STN:280:BymH38rhtFY%3D Occurrence Handle8827563
JC Nichols JE Amato SM. Chung (2003) ArticleTitleCharacteristics of Lisch nodules in patients with neurofibromatosis type 1 J Pediatr Ophthalmol Strabismus 40 293–6 Occurrence Handle14560838
NK Ragge RE Falk WE Cohen AL. Murphree (1993) ArticleTitleImages of Lisch nodules across the spectrum Eye 7 95–101 Occurrence Handle8325432
S Huson D Jones L. Beck (1987) ArticleTitleOphthalmic manifestations of neurofibromatosis Br J Ophthalmol 71 235–8 Occurrence Handle3103673
RA Lewis VM. Riccardi (1981) ArticleTitleVon Recklinghausen neurofibromatosis Incidence of iris hamartomata Ophthalmology 88 348–54 Occurrence Handle1:STN:280:Bi6B2cnitVU%3D Occurrence Handle6789269
TH Williamson A Garner AT Moore (1991) ArticleTitleStructure of Lisch nodules in neurofibromatosis type 1 Ophthalmic Paediatr Genet 12 11–7 Occurrence Handle1:STN:280:By6A2M7mt1Q%3D Occurrence Handle1908964
T Rosser RJ. Packer (2002) ArticleTitleIntracranial neoplasms in children with neurofibromatosis 1 J Child Neurol 17 630–7 Occurrence Handle12403562
JJ. Dutton (1994) ArticleTitleGliomas of the anterior visual pathway Surg Ophthalmol 38 427–52 Occurrence Handle10.1016/0039-6257(94)90173-2 Occurrence Handle1:STN:280:ByuB2sfntVM%3D
JP Bataini S Delanian D. Ponvert (1991) ArticleTitleChiasmal gliomas: results of irradiation management in 57 patients and review of literature Int J Radiat Oncol Biol Phys 21 615–23 Occurrence Handle1:STN:280:By6A3s7ovV0%3D Occurrence Handle1907959
RA Lewis LP Gerson KA Axelson et al. (1984) ArticleTitleVon Recklinghausen neurofibromatosis. II. Incidence of optic gliomata Ophthalmology 91 929–35 Occurrence Handle1:STN:280:BiqD3sjktlI%3D Occurrence Handle6436764
R Listernick J Charrow MJ Greenwald NB. Esterly (1989) ArticleTitleOptic gliomas in children with neurofibromatosis type 1 J Pediatr 114 788–92 Occurrence Handle1:STN:280:BiaB3srptlQ%3D Occurrence Handle2497236
AM Lund F. Skovby (1991) ArticleTitleOptic gliomas in children with neurofibromatosis type 1 Eur J Pediatr 150 835–8 Occurrence Handle1:STN:280:By2D2sjgsVQ%3D Occurrence Handle1743214
JA Rush BR Younge RJ Campbell CS. MacCarty (1982) ArticleTitleOptic glioma Long-term follow-up of 85 histopathologically verified cases Ophthalmology 89 1213–9 Occurrence Handle1:STN:280:BiyC3Mnislc%3D Occurrence Handle6818504
I Pascual-Castroviejo A Martinez Bermejo V Lopez Martin et al. (1994) ArticleTitleOptic gliomas in neurofibromatosis type 1 (NF-1) Presentation of 31 IssueIDcases. Neurologia. 9 173–7
BR. Korf (2000) ArticleTitleMalignancy in neurofibromatosis type 1 Oncologist 5 477–85 Occurrence Handle1:STN:280:DC%2BD3M%2FntlKquw%3D%3D Occurrence Handle11110599
P Steinbok S Hentschel P Almqvist et al. (2002) ArticleTitleManagement of optic chiasmatic/hypothalamic astrocytomas in children Can J Neurol Sci 29 132–38 Occurrence Handle12035834
R Listernick J Charrow M Greenwald M. Mets (1994) ArticleTitleNatural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study J Pediatr 125 63–6 Occurrence Handle1:STN:280:ByuB1Mzht10%3D Occurrence Handle8021787
LN Rossi G Pastorino etal. Scotti G (1994) ArticleTitleEarly diagnosis of optic glioma in children with neurofibromatosis type 1 Childs Nerv Syst 10 426–9 Occurrence Handle1:STN:280:ByqC2cvmvFQ%3D Occurrence Handle7842431
JP Farmer S Khan A. Khan (2002) ArticleTitleNeurofibromatosis type 1 and the pediatric neurosurgeon: a 20-year institutional review Pediatr Neurosurg 37 122–36 Occurrence Handle12187057
JJ Kovalic PW Grigsby MJ Shepard et al. (1990) ArticleTitleRadiation therapy for gliomas of the optic nerve and chiasm Int J Radiat Oncol Biol Phys 18 927–32 Occurrence Handle1:STN:280:By%2BB3Mnjs1c%3D Occurrence Handle2323979
M Garvey RJ. Packer (1996) ArticleTitleAn integrated approach to the treatment of chiasmatic-hypothalamic gliomas J Neurooncol 28 167–83 Occurrence Handle1:STN:280:BymH38bjsF0%3D Occurrence Handle8832460
SM Pierce PD Barnes SJ Loeffler et al. (1990) ArticleTitleDefinitive radiation therapy in the management of symptomatic patients with optic glioma Survival and long-term effects Cancer 65 45–52 Occurrence Handle1:STN:280:By%2BD1M%2FjvVQ%3D Occurrence Handle2104571
V Arigon M Binaghi C Sabouret et al. (2002) ArticleTitleUsefulness of systematic ophthalmologic investigations in neurofibromatosis 1: a cross-sectional study of 211 patients Eur J Ophthalmol 12 413–8 Occurrence Handle1:STN:280:DC%2BD38jht1CksA%3D%3D Occurrence Handle12474925
SR Farris AS. Grove SuffixJr (1996) ArticleTitleOrbital and eyelid manifestations of neurofibromatosis: a clinical study and literature review Ophthal Plast Reconstr Surg 12 245–59 Occurrence Handle1:STN:280:ByiD1MbotFI%3D Occurrence Handle8944385
RE Friedrich B Korf C Funsterer VF. Mautner (2003) ArticleTitleGrowth type of plexiform neurofibromas in NF1 determined on magnetic resonance images Anticancer Res 23 949–52 Occurrence Handle1:STN:280:DC%2BD3s3ptleguw%3D%3D Occurrence Handle12820328
IT Jackson A Carbonnel Z Potparic K. Shaw (1993) ArticleTitleOrbitotemporal neurofibromatosis: classification and treatment Plast Reconstr Surg 92 1–11 Occurrence Handle1:STN:280:ByyB1MnjtFU%3D Occurrence Handle8516385
RA Dailey SA Sullivan JL. Wobig (2000) ArticleTitleSurgical debulking of eyelid and anterior orbital plexiform neurofibromas by means of the carbon dioxide laser Am J Ophthalmol 130 117–9 Occurrence Handle1:STN:280:DC%2BD3M%2FktlGksw%3D%3D Occurrence Handle11004270
MS Payne JM Nadell Y Lacassie AH. Tilton (2003) ArticleTitleCongenital glaucoma and neurofibromatosis in a monozygotic twin: case report and review of the literature J Child Neurol 18 504–8 Occurrence Handle12940659
L Satran RD Letson EL. Seljeskog (1980) ArticleTitleNeurofibromatosis with congenital glaucoma and buphthalmos in a newborn Am J Dis Child 134 182–3 Occurrence Handle1:STN:280:Bi%2BC3cnnsFU%3D Occurrence Handle6766271
TM Ulbright KH Fulling EM. Helveston (1984) ArticleTitleAstrocytic tumors of the retina Differentiation of sporadic tumors from phakomatosis-associated tumors Arch Pathol Lab Med 108 160–3 Occurrence Handle1:STN:280:BiuC38jisFY%3D Occurrence Handle6421263
M Destro DJ D’Amico ES Gragoudas et al. (1991) ArticleTitleRetinal manifestations of neurofibromatosis Diagnosis and management. Arch Ophthalmol 109 662–6 Occurrence Handle1:STN:280:By6B383gtVE%3D
RA Wiznia JK Freedman AD Mancini JA. Shields (1978) ArticleTitleMalignant melanoma of the choroid in neurofibromatosis Am J Ophthalmol 86 684–7 Occurrence Handle1:STN:280:CSaD2MbotlI%3D Occurrence Handle102202
AD Singh MX Wang LA Donoso et al. (1996) ArticleTitleGenetic aspects of uveal melanoma: a brief review Semin Oncol 23 768–72 Occurrence Handle1:STN:280:ByiC38rlt1A%3D Occurrence Handle8970601
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Kreusel, KM. Ophthalmological manifestations in VHL and NF 1: pathological and diagnostic implications. Familial Cancer 4, 43–47 (2005). https://doi.org/10.1007/s10689-004-1327-0
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DOI: https://doi.org/10.1007/s10689-004-1327-0