Abstract
Two distinct populations of pigmented cells can be found in the eye. The pigmented epithelial cells of the iris, ciliary body, and retina are derived from the neural tube. These cells undergo reactive hyperplasia in response to a variety of stimuli, but they only rarely undergo malignant transformation. The other population consists of the stromal melanocytes, which can be found in the skin, conjunctiva, and uveal tract. These are neural crest in origin and do not undergo reactive hyperplasia, but they are the source of the most common primary intraocular tumor: uveal melanoma. The uveal melanocytes are considered the counterpart of dermal melanocytes, the source of cutaneous melanoma. (Dermal melanoma is discussed elsewhere in this text. This chapter focuses on eye-related melanomas.)
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsPreview
Unable to display preview. Download preview PDF.
References
Phillpotts BA, Sanders RJ, Shields JS, et al. Uveal melanomas in black patients: a case series and comparative review. J Natl Med Assoc 1995;87:709.
Cutler SJ, Young JL (eds) Third National Cancer Survey: incidence data. NCL Monogr 1975;41:1.
Robertson DM. Changing concepts in the management of choroidal melanoma. Am J Ophthalmol 2003;136:161–170.
Raivio I. Uveal melanoma in Finland: an epidemiological, clinical, histological and prognostic study. Acta Ophthalmol 1977;133(suppl):3.
Gialason I, Magnussen G, Tulinius H. Malignant melanoma of the uvea in Iceland. Acta Ophthalmol 1985;63:385–394.
Margo CE, Mulla Z, Billiris K. Incidence of surgically treated uveal melanoma by race and ethnicity. Ophthalmology 1998;105:1087.
Wilkes SR, Robertson DM, Kurland LT, et al. Incidence of uveal melanoma in the resident population of Rochester and Olmstead County, Minnesota. Am J Ophthalmol 1979;87:639–674.
Scotto J, Fraumeni JF, Lee JAH. Melanoma of the eye and other noncutaneous sites. JNCI 1976;56:489.
Gass JDM, Gieser RG, Wilkinson CP, et al. Bilateral diffuse uveal melanocytic proliferation in patients with occult carcinoma. Arch Ophthalmol 1990;108:527–533.
Singh AD, De Potter P, Fijal BA, et al. Lifetime prevalence of uveal melanoma in white patients with oculo (dermal) melanocytosis. Ophthalmology 1998;105:195.
Yanoff M, Zimmerman LE. Histogenesis of malignant melanomas of the uvea. III. The relationship of congenital ocular melanocytosis and neurofibromatosis to uveal melanomas. Arch Ophthalmol 1967;77:331.
Van Hees CL, De Boer A, Jager MJ, et al. Are atypical nevi a risk factor for uveal melanoma? A case-control study. J Invest Dermatol 1994;103:202.
Egan KM, Gragoudas ES, Seddon JM, et al. Smoking and the risk of early metastases from uveal melanoma. Ophthalmology 1992;99:537.
Horn EP, Hartge P, Shields JA, et al. Sunlight and risk of uveal melanoma. J Natl Cancer Inst 1994;86:1476.
Wagoner MD, Albert DM. The incidence of metastases from untreated ciliary body and choroidal melanomas. Arch Opthalmol 1982;100(6):939–940.
Collaborative Ocular Melanoma Study Group. Assessment of metastatic disease status at death in 435 patients with large choroidal melanoma in the COMS: COMS report no. 15. Arch Opthalmol 2001;119(5):670–676.
Starr HJ, Zimmerman LE. Extrascleral extension and orbital recurrence of a malignant melanoma of the choroid and ciliary body. Int Opthalmol Clin 1962;2:369.
Folberg R, Pe’er J, Gruman LM, et al. The morphologic characteristics of tumor blood vessels as a marker of tumor progression in primary human uveal melanoma. Hum Pathol 1992;23:1298.
Folberg R, Rummelt V, Parys-Van Ginderdeuren R, et al. The prognostic value of tumor blood vessel morphology in primary uveal melanoma. Ophthalmology 1993;100:1389.
Sorensen FB, Gamel JW, McCurdy J. Stereologic estimation of nucleolar volume in ocular melanoma: a comparative study of size estimators with prognostic impact. Hum Pathol 1993;24:513.
Gamel JW, McCurdy JB, McLean IW. A comparison of prognostic covariates for uveal melanomas. Invest Ophthalmol Vis Sci 1992;33:1919.
Marcus DM, Minokovitz JB, Wardwell SD, et al. The value of nucleolar organizing regions in uveal melanoma. Am J Ophthalmol 1990;100:527.
Whelchel JC, Farah SE, McLean IW, et al. Immunohisto-chemistry of infiltrating lymphocytes in uveal malignant melanoma. Invest Ophthalmol Vis Sci 1993;34:2603–2606.
Gass JDM. Observation of suspected choroidal and ciliary body melanomas for evidence of growth prior to enucleation. Ophthalmology 1990;87:525.
Char DH, Kroll SM, Phillips TL. Uveal melanoma growth rate and prognosis. Arch Ophthalmol 1997;115:1014–1018.
Karlsson M, Boeryd B, Carstensen J, et al. DNA ploidy and S-phase fraction as prognostic factors in patients with uveal melanomas. Br J Cancer 1995;71:177.
Coleman K, Baak JP, van Diest PF, et al. DNA ploidy status in 84 ocular melanomas: a study of DNA quantitation in ocular melanomas by flow cytometry and automatic and interactive static image analysis. Hum Pathol 1995;26:99.
Mooy C, Vissers K, Luyton G. et al. DNA flow cytometry in uveal melanoma: the effect of pre-enucleation irradiation. Br J Ophthalmol 1995;79:174.
Collaborative Ocular Melanoma Study Group. Histopathologic characteristics of uveal melanomas in eyes enucleated from the Collaborative Ocular Melanoma Study. COMS report no. 6. Am J Opthalmol 1998;125(6):745–766.
Shields CL, Cater J, Shields JA, et al. Combination of clinical factors predictive of growth of small choroidal melanocytic tumors. Arch Ophthalmol 2000;118:360–364.
Meyer-Schwickerath G. The preservation of vision by treatment of the intraocular tumors with light coagulation. Arch Ophthalmol 1961;66:458.
Vogel MK. The application of photocoagulation in the treatment of the choroid. Ophthalmic Forum 1983;1:46.
Shields JA. The expanding role of laser photocoagulation for intraocular tumors. The 1993 H. Christian Zweng Memorial Lecture. Retina 1994;14:310.
Shields CL, Shields JA, Cater J, et al. Transpupillary thermotherapy for choroidal melanoma: tumor control and visual results in 100 consecutive cases. Ophthalmology 1998;105:581.
Finger PT, Berson A, Szechter A. Palladium-103 vs. iodine-125 for ophthalmic plaque radiotherapy. Int J Radiat Oncol Biol Phys 1993;27:849.
Finger PT, Berson A, Szechter A. Palladium-103 plaque therapy for choroidal melanoma. Ophthalmology 1999;106:606.
Collaborative Ocular Melanoma Study Group. The COMS randomized trial of iodine 125 brachytherapy for choroidal melanoma. III: Initial mortality findings. COMS Report No. 18. Arch Opthalmol 2001;119(7):969–982.
Perez CA, Brady LW (eds) Principles and Practice of Radiation Oncology. Philadephia: Lippincott-Raven, 1998.
Wilson MW, Hungerford JL. Comparison of episcleral plaque and proton beam radiation therapy for the treatment of choroidal melanoma. Ophthalmology 1999;106:1579.
Collaborative Ocular Melanoma Study Group. COMS randomized trial of pre-enucleation radiation of large choroidal melanoma: I. Characteristics of patients enrolled and not enrolled. COMS Report No. 9. Am J Ophthalmol 1998;125(6):767–778.
The Collaborative Ocular Melanoma Study-Quality of Life Study Group. Development and validation of disease specific measures for choroidal melanoma: COMS-QOL Report No. 2. Arch Opthalmol 2003;121(7):1010–1020.
Jampol LM, Moy CS, Murray TG. The COMS randomized trial of iodine-125 brachytherapy for choroidal melanoma: IV. Local treatment failure and enucleation in the first 5 years after brachytherapy. COMS Report No. 19. Ophthalmology 2002;109(12):2197–2206.
Anonymous. The Collaborative Ocular Melanoma Study (COMS) randomized trial of pre-enucleation radiation of large choroidal melanoma. III: Local complications and observations following enucleation. COMS Report No. 11. Am J Ophthalmol 1998;126(3):362–372.
Collaborative Ocular Melanoma Study Group. The Collaborative Ocular Melanoma Study (COMS) randomized trial of pre-enucleation radiation of large choroidal melanoma. II: Initial mortality findings. COMS Report No. 10. Am J Opthalmol 1998;125(6):779–796.
Peyman Ga, Apple DJ. Local excision of a choroidal malignant melanoma: full-thickness eyewall resection. Arch Ophthalmol 1974;92:216.
Damato BE, Paul J, Foulds WS. Risk factors for residual and recurrent uveal melanoma after trans-scleral local resection [comment]. Br J Ophthalmol 1996;80(2):102–108.
Sahel JA, Brini A, Albert DM. Pathology of the retina and vitreous. In: Albert DM, Jakobiec FA (eds). Principles and Practice of Ophthalmology, 2nd ed, vol 4. Philadelphia: Saunders, 2000:3750–3792.
Albert DM, Dryja TP. The eye. In: Cotran RS, Kumar V, Collins T (eds). Pathologic Basis of Disease, 6th ed. Philadelphia: Saunders, 1999:1359–1377.
McLean IW. Retinoblastomas, retinocytomas, and pseudoretinoblastomas. In: Ophthalmic Pathology: An Atlas and Textbook, 4th ed, vol 2. Philadelphia: Saunders, 1996:1332–1438.
Peterson RA, Friend SH, Albert DM. Prolonged survival of a child with metastatic retinoblastoma. J Pediatr Ophthalmol Strabismus 1987;24(5):247–248.
Abramson DH, Frnak CM, Susman M, et al. Presenting signs of retinoblastoma. J Pediatr 1998;132(3):505–508.
Friend SH, Bernards R, Rodlj S, et al. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature (Lond) 1986;323:643–646.
Cavenee WK, Dryja TP, Phillips RA, et al. Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature (Lond) 1983;305:779.
Dryja TP, Cavenee W, White R, et al. Homozygosity of chromosome 13 in retinoblastoma. N Engl J Med 1984;310:550.
Wong FL, Boice JD Jr, Abramson DH, et al. Cancer incidence after retinoblastoma: radiation dose and sarcoma risk. JAMA 1997;278(15):1262–1266.
Eng C, Li FP, Abramson DH. Mortality from second tumors among long-term survivors of retinoblastoma. J Natl Cancer Inst 1993;85(14):1121–1128.
Shields JA, Stephens RT, Sarin LK. The differential diagnosis of retinoblastoma. In: Harley RD (ed). Pediatric Ophthalmology, 2nd ed. Philadelphia: Saunders, 1983:114.
Shields JA, Michelson JB, Leonard BC, et al. B-scan ultrasonography in the diagnosis of atypical retinoblastomas. Can J Ophthalmol 1976;11:42–51.
Hermsen VM. Echographic diagnosis. In: Blodi FC (ed). Retinoblastoma. New York: Churchill Livingstone, 1985:111–127.
Donoso LA, Shields JA, Felber NT, et al. Intracranial malignancy in patients with bilateral retinoblastoma. Retina 1981;1:67–74.
Pratt CB, Meyer D, Chenaille P, et al. The use of bone marrow aspirates and lumbar puncture at the time of diagnosis of retinoblastoma. J Clin Oncol 1989;7:140–143.
Moll AC, Imhof AM, Schouten-Van Meeteren AYN, et al. At what age could screening for familial retinoblastoma be stopped? A register based study 1945–98. Br J Ophthalmol 2000;84:1170–1172.
Castillo BV Jr, Kaufman L. Pediatric tumors of the eye and orbit. Pediatr Clin N Am 2003;50(1):149–172.
Hungerford J, Toma N, Plowman P, et al. External beam radiotherapy for retinoblastoma: I. Whole eye technique. Br J Ophthalmol 1995;79:109–111.
Shields C, Shields J, Needle M, et al. Combined chemoreduction and adjuvant treatment for introcular retinoblastoma. Ophthalmology 1997;104(12):2101–2111.
Hall LS, Ceisler E, Abramson D. Visual outcomes in children with bilateral retinoblastoma. J Pediatr Ophthalmol Strabismus 1999;3:138–142.
Shields C, Shields J. Recent developments in the management of retinoblastoma. J Pediatr Ophthalmol Strabismus 1999;36:8–18.
Magramm I, Abramson D, Ellsworth R. Optic nerve involvement in retinoblastoma. Ophthalmology 1989;96:217–222.
Shields CL, Shields JA, De Potter P. New treatment modalities for retinoblastoma. Curr Opin Ophthalmol 1996;7(111):20–26.
De Potter P. Current treatment of retinoblastoma. Curr Opin Ophthalmol 2002;13:331–336.
Shields CL, Honavar SG, Meadows AT, et al. Chemoreduction plus focal therapy for retinoblastoma: factors predictive of need for treatment with external beam radiotherapy or enucleation. Am J Ophthalmol 2002;133:657–664.
Friedman DL, Limelstein B, Shields CL, et al. Chemoreduction and local ophthalmic therapy for intraocular retinoblastoma. J Clin Oncol 2000;18:12–17.
Shields CL, Shields JA, De Potter P, et al. The effect of chemoreduction on the retinoblastoma-induced retinal detachment. J Pediatr Ophthalmol Strabismus 1997;34:165–169.
Shields CL, Santos MC, Diniz W, et al. Thermotherapy for retinoblastoma. Arch Ophthalmol 1999;117:885–893.
Shields CL, Shields JA, Minelli, et al. Regression of retinoblastoma after plaque radiotherapy. Am J Ophthalmol 1993;115:181–187.
Shields CL, Shields JA, De Potter P, et al. Plaque radiotherapy in the management of retinoblastoma: use as a primary and secondary treatment. Ophthalmology 1993;100:216–224.
Cassady J. Radiation therapy for retinoblastoma. In: Albert DM, Jakobiec FA (eds). Principles and Practice of Ophthalmology, 2nd ed, vol 5. Philadelphia: Saunders, 2000:3285–3297.
Grabowski EF, Abramson DH. Intraocular and extraocular retinoblastoma. Hematol Oncol Clinc N Am 1987;1:721–735.
Pratt CB, Fontanesi J, Chenaille P, et al. Chemotherapy for extraocular retinoblastoma. Pediatr Hematol Oncol 1994;11:301–309.
White L. Chemotherapy for retinoblastoma. Med Pediatr Oncol 1995;24:341–342.
Ferry AP, Font RL. Carcinoma metastatic to the eye and orbit. I: A clinicopathologic study of 227 cases. Arch Ophthalmol 1974;92:276.
Castro PA, Albert DM, Wang WJ, Ni C. Tumors metastatic to the eye and adnexa. Int Ophthalmol Clin 1982;22:189.
Bloch RS, Gartner S. The incidence of ocular metastatic carcinoma. Arch Ophthalmol 1971;85:673.
Stephens RF, Shields JA. Diagnosis and management of cancer metastatic to the uvea: a study of 70 cases. Ophthalmology 1979;86:1336–1349.
Albert DM, Rubenstein RA, Scheie HG: Tumor metastases to the eye. I: Incidence in 213 patients with generalized malignancy. Am J Ophthalmol 1967;63:723.
Shields CL, Shields JA, Gross NE, et al. Survey of 520 eyes with uveal metastases. Ophthalmology 1997;104:1265–1276.
Freedman MI, Folk JC. Metastatic tumors to the eye and orbit: patient survival and clinical characteristics. Arch Ophthalmol 1987;105:1215.
Shields JA. Diagnosis and Management of Intraocular Tumors. St. Louis: Mosby-Year Book, 1983.
Char DH. Clinical Ocular Oncology, 2nd ed. Philadelphia: Lippincott-Raven, 1997:89–165.
Merrill CF, Kaufman DI, Dimitrov NV. Breast cancer metastatic to the eye is a common entity. Cancer (Phila) 1991;68:623–627.
Mewis L, Young SF. Breast carcinoma metastatic to the choroids: analysis of 67 patients. Ophthalmology 1982;89:147–151.
Thatcher N, Thomas PRM. Choroidal metastases from breast carcinoma: a survey of 42 patients and the use of radiation therapy. Clin Radiol 1975;26:549–553.
Chu FC, Huh SH, Nisce LZ, et al. Radiation therapy of choroidal metastasis from breast cancer. Int J Radiat Oncol Biol Phys 1977;2:273–279.
Albert DM, Volpe MJ. Metastases to the uvea. In: Albert DM, Jakobiec FA (eds). Principles and Practice of Ophthalmology, 2nd ed. Philadelphia: Saunders, 2000;5073–5084.
Ebert EM, Boger W, Albert DM. In: Albert DM, Jakobeic FA (eds). Principles and Practice of Ophthalmology, 2nd ed, vol 6. Philadelphia: Saunders, 2000:5117–5146.
Beauchamp GR. Neurofibromatosis type 1 in children. Trans Am Ophthalmol Soc 1995;93:445–472.
Sipple K. Ocular findings in neurofibromatosis type 1. Int Ophthalmol Clin 2001;41(1):25–40.
Fountain JW, Wallace MR, Bruce MA, et al. Physical mapping of a translocation breakbpoint in neurofibromatosis. Science 1989;244:1085–1087.
Jadayel D, Fain P, Upadhyaya M, et al. Paternal origin of new mutations in neurofibromatosis. Nature (Lomd) 1990;343:558–559.
Neurofibromatosis. Conference Statement. National Institute of Health Consensus Development Conference. Arch Neurology 1988;45:575–580.
Font RL, Ferry AP. The phakomatoses. Int Ophthalmol Clin 1972;12:1–50.
Barbagallo JS, Kolodzieh MS, Silverberg NB, et al. Neurocutaneous disorders. Dermatol Clin 2002;20(3):547–560.
Hope DJ, Mulvihill JJ. Malignancy in neurofibromatosis. Adv Neurol 1981;29:33–56.
Riccardi VM. von Recklinghausen neurofibromatosis. N Engl J Med 1981;305:1617–1627.
Sipple K. Ocular findings in neurofibromatosis type 1. Int Ophthalmol Clin 2001;41(1):25–40.
Font RL, Ferry AP. The phakomatoses neurofibromatosis. Int Ophthalmol Clin 1972;12:1–50.
Benedict PH, Szabo G, Fitzpatrick TB, Sinesi SJ. Melanotic macules in Albright’s syndrome and in neurofibromatosis. JAMA 1968;205:72–80.
Grant WM, Walton DS. Distinctive gonioscopic findings in glaucoma due to neurofibromatosis. Arch Ophthal 1968;79:127–134.
Kandt RS. Tuberous sclerosis complex and neurofibromatosis type 1: the two most common neurocutaneous diseases. Neurol Clin 2002;20(4):941–964.
Dutton JJ. Gliomas of the anterior visual pathway. Surv Ophthalmol 1994;38:427–452.
Augsburger JJ, Bolling JP. Phakomatoses. In: Yanoff M, Duker JS (eds). Ophthalmology, 2nd ed, vol 158. Philadelphia: Saunders, 2004:1097–1102.
Lewis RA, Riccardi VM. Von Recklinghausen neurofiromatosis: incidence of iris hamartomata. Ophthalmology 1981;88:348–354.
Hudson S, Jones D, Beck L. Ophthalmic manifestations of neurofibromatosis. Br J Ophthalmol 1987;71:235–238.
Brownstein S, Little JM. Ocular neurofibromatosis. Ophthalmology 1983;91:1595–1599.
Kurosawa A, Kurosawa H. Ovoid bodies in choroidal neurofibromatosis. Arch Ophthalmol 1982;100:1939–1941.
Riccardi VM. Von Recklinghausen neurofibromatosis. N Engl J Med 1981;305:1617–1627.
Wiznia RA, Freedman JK, Mancini AD, Shields JA. Malignant melanoma of the choroid in neurofibromatosis. Am J Ophthalmol 1978;86:684–687.
Parry DM, Eldridge R, Kaiser-Kupfer MI, et al. Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Gen 1994;52:450–461.
Richards SC, Bachynski BN. Ophthalmic manifestations of neurofibromatosis type 2. Int Pediatr 1990;5:270.
Rouleau BG, Wertelecki W, Haines JL, et al: Genetic linkage of bilateral aoustic neurofibromatosis to a DNA marker on chromosome 22. Nature (Lond) 1987;329:246.
Ragge NK, Baser ME, Klein J, et al. Ocular abnormalities in neruofibromatosis 2. Am J Ophthalmol 1995;120:634.
Kaye LD, Rothner AD, Beauchamp GR, et al. Ocular findings associated with neurofibromatosis type II. Ophthalmology 1992;99:1424.
Landau K, Dossetor FM, Hoyt WF, et al. Retinal hamartoma in neurofibromatosis 2. Arch Ophthalmol 1990;108:328.
Good WV, Brodsky MC, Edwards MS, et al. Bilateral retinal hamartomas in neurofibromatosis type 2. Br J Ophthalmol 1991;75:190.
National Institute of Health Consensus Development Conferences Statement on Acoustic Neuroma, December 11–13, 1991. Consensus Development Panel. Arch Neurol 1994;51:201–207.
Crino PB, Henske EP. New developments in the neurobiology of tuberous sclerosis complex. Neurology 1999;53:1384–1390.
Ebert EM, Boger W, Albert DM. In: Albert DM, Jakobeic FA (eds). Principles and Practice of Ophthalmology, 2nd ed, vol 6. Philadelphia: Saunders, 2000: 5117–5146.
Kandt RS. Tuberous sclerosis complex and neurofibromatosis type 1: the two most common neurocutaneous diseases. Neurol Clin 2002;20(4):941–964.
Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998;13:624–628.
Barbagallo JS, Kolodzieh MS, Silverberg NB, et al. Neurocutaneous disorders. Dermatol Clin 2002;20(3):547–560.
Font RL, Ferry AP. The phakomatoses. Int Ophthalmol Clin 1972;12:1–50.
Lagos JC, Gomez MR. Tuberous sclerosis: reappraisal of a clinical entity. Mayo Clin Proc 1967;42:26–49.
Melmon KL, Rosen SW. Lindau’s disease: review of the literature and study of a large kindred. Am J Med 1964;36:595–617.
Maher ER, Yates JRW, Harries R, et al. Clinical features and natural history of von Hippel-Lindau disease. Q J Med 1990;66:233.
Hardwig P, Robertson DM. von Hippel-Lindau disease: a familial, often lethal, multi-system phakomatosis. Ophthalmology 1984;91:263–270.
Oakes WJ. The natural history of patients with the Sturge-Weber syndrome. Pediatr Neurosurg 1992;18:287–290.
Eisenhofer G, Walther MM, Huynh TT, et al. Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes. J Clin Endocrinol Metab 2001;86(5):1999–2008.
Font RL, Ferry AP. The phakomatoses. Int Ophthalmol Clin 1972;12:1–50.
Welch RB. Von 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 1970;66:367.
Maher ER, Yates JRW, Harries R, et al. Clinical features and natural history of von Hippel-Lindau disease. Q J Med 1990;66:233.
Enjolras O, Riche MC, Merland JJ. Facial port-wine stains and Sturge-Weber syndrome. Pediatrics 1985;76:48–51.
Ebert EM, Boger W, Albert DM. In: Albert DM, Jakobeic FA (eds). Principles and Practice of Ophthalmology, 2nd ed, vol 6. Philadelphia: Saunders, 2000:5117–5146.
Sullivan TJ, Clarke MP, Morin JD. The ocular manifestations of the Sturge-Weber syndrome. J Pediatr Ophthalmol Strabismus 1992;29:349.
Kerrison B. Neuro-ophthalmology of the phacomatoses. Curr Opin Ophthalmol 2000;11:413–420.
Sujansky E, Conradi S. Sturge-Weber syndrome: age of onset of seizures and glaucoma and the prognosis for affected children. J Child Neurol 1995;10:49–58.
Font RL, Ferry AP. The phakomatoses. Int Ophthalmol Clin 1972;12:1–50.
Susac JO, Smith JL, Scelfo RJ. The “tomato-catsup” fundus in Sturge-Weber syndrome. Ophthalmology 1979;861360.
Sujansky E, Conradi S. Outcome of Sturge-Weber syndrome in 52 adults. Am J Med Genet 1995;57:35–45.
Kerrison B. Neuro-ophthalmology of the phacomatoses. Curr Opin Ophthalmol 2000;11:413–420.
Ito M, Sato K, Ohnuki A, Uto A. Sturge-Weber disease: operative indications and surgical results. Brain Dev 1990;12:473–477.
Hecht F, Koler RD, Rigas DA, et al. Leukemia and lymphoctes in ataxia telangiectasia. Lancet 1996;2:1193.
Gatti RA, Boder E, Vinters HV, et al. Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis. Medicine (Baltim) 1991;70:99–117.
Swift M, Reitnauer PF, Morrell D, et al. Breast and other cancers in families with ataxia-telangiectasia. New Engl J Med 1987;316:1289–1294.
Willinsky RA, Lasjaunias P, Terbrugge K, et al. Multiple cerebral arteriovenous malformations (AVMs). Review of our experience from 203 patients with cerebral vascular lesions. Neuroradiology 1990;32:207–210.
Schmickel R. Chromosomal deletions and enzyme deficiencies. J Pediatr 1986;108:244–246.
Walther C, Gruss P. Pax-6, a murine paired box gene, is expressed in the developing CNS. Development (Camb) 1991;113:1435–1449.
Hanson I, Fletcher J, Jordon T, et al. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters’ anomaly. Nat Genet 1994;6:168–173.
Mirzayans F, Pearce W, MacDonald I, Walter M. Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Am J Hum Genet 1995;57:539–548.
Harnois C, Boisjoly HM, Jotterand V. Sporadic aniridia and Wilms’ tumor: visual function evaluation of three cases. Graefes Arch Clin Exp Ophthalmol 1989;227:244–247.
Nelson LB, Spaeth GL, Nowinski TS, et al. Aniridia. A review. Surv Ophthalmol 1984;28:621–642.
Shields MB. Textbook of Glaucoma, 4th ed. Baltimore: Williams & Wilkins, 1998.
Shannon RS, Mann JR, Harper E, et al. Wilms’ tumour and aniridia: clinical and cytogenetic features. Arch Dis Child 1982;57:685–690.
Mackintosh TF, Girdwood TG, Parker DJ, Strachan IM. Aniridia and Wilms’ tumour (nephroblastoma). Br J Ophthalmol 1968;52:846–848.
Cotlier E, Rose M, Moel SA. Aniridia, cataracts, and Wilms’ tumor in monozygous twins. Am J Ophthalmol 1978;86:129–132.
Traboulsi EI, Maumenee IH, Krush AJ, et al. Pigmented ocular fundus lesions in the inherited gastrointestinal polyposis syndromes and in hereditary nonpolyposis colorectal cancer. Ophthalmology 1988;95:964–969.
Stein EA, Brady KD. Ophthalmologic and electro-oculographic findings in Gardner’s syndrome. Am J Ophthalmol 1988;106:326–331.
Blair N, Trempe C. Hypertrophy of the retinal pigment epithelium associated with Gardner’s syndrome. Am J Ophthalmol 1980;90:661–667.
Traboulsi EI, Krush AJ, Gardner EJ, et al. Prevalence and importance of pigmented ocular fundus lesions in Gardner’s syndrome. N Engl J Med 1987;316:661–667.
Olea JL, Mateos JM, Llompart A, et al. Frequency of congenital hypertrophy of the retinal pigment epithelium in familial adenomatosis polyposis. Acta Ophthalmol Scand 1996;74:48–50.
Nasir M, Yee R, Piest K, et al. Multiple endocrine neoplasia type III. Cornea 1991;10:454–459.
Kinoshita S, Tanaka F, Ohashi Y, et al. Incidence of prominent corneal nerves in multiple endocrine neoplasia type 2A. Am J Ophthalmol 1991;111:311.
Morrison PJ, Nevin NC. Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome). J Med Genet 1996;33:779–782.
Gass JDM, Gieser RG, Wilkinson CP, et al. Bilateral diffuse uveal melanocytic proliferation in patients with occult carcinoma. Arch Ophthalmol 1990;108:527–533.
Machemer R. Zur Pathogenese des flachenhaften malignen Melanoms. Klin Monatsbl Augenheilkd 1966;148:641–652.
Prusiner P, Butler A, Yavitz W, Stern W. Metastatic adenocarcinoma presenting as bilateral blindness. Ann Ophthalmol 1983;15:653–656.
Ryll D, Campbell R, Robertson D, Brubaker S. Pseudometastatic lesions of the choroid. Ophthalmology 1980;87:1181–1186.
Prause J, Jensen O, Eisgart F, et al. Bilateral diffuse malignant melanoma of the uvea associated with large cell carcinoma, giant cell type, of the lung. Case report of a newly described syndrome. Ophthalmologica 1984;189:221–228.
Mullaney J, Mooney D, O’Connor M, McDonald G. Bilateral ovarian carcinoma with bilateral uveal melanoma. Br J Ophthalmol 1984;68:261–267.
de Wolff-Rouendall D. Bilateral diffuse benign melanocytic tumors of the uveal tract. A clinicopathological study. Int Ophthalmol 1985;7:149–160.
Filipic M, Ambler J. Bilateral diffuse melanocytic uveal tumours associated with systemic malignant neoplasm. Aust N Z J Ophthalmol 1986;14:293–299.
Tsukahara S, Wakui K, Ohzeki S. Simultaneous bilateral primary diffuse malignant uveal melanoma: case report with pathological examination. Br J Ophthalmol 1986;70:33–38.
Rohrbach JM, Roggendorf W, Thanos S, et al. Simultaneous bilateral diffuse melanocytic uveal hyperplasia. Am J Ophthalmol 1990;10:49–56.
Thirkill CE, Roth AM, Keltner J. Cancer-associated retinopathy. Arch Ophthalmol 1987;105:372–375.
Grofts JW, Bachynski BN, Odel JG. Visual paraneoplastic syndrome associated with undifferentiated endometrial carcinoma. Can J Ophthalmol 1988;23:128–132.
Polans A, Witkowska D, Haley T, et al. Recoverin, a photoreceptor-specific calcium binding protein, is expressed by the tumor of a patient with cancer associated retinopathy. Proc Natl Acad Sci USA 1995;92:9176–9180.
Wiechmann a, Akots G, Hammarback J, et al. Genetic and physical mapping of human recoverin: a gene expressed in retinal photoreceptors. Invest Ophthalmol Vis Sci 1994;35: 325–331.
Murakami A, Yajima T, Inana G. Isolation of human retinal genes: recoverin cDNA and gene. Biochem Biophys Res Commun 1992;187:234–244.
Kellner U, Bornfeld N, Foerster M. Severe course of cutaneous melanoma associated paraneoplastic retinopathy. Br J Ophthalmol 1995;79:746–752.
Ripps H, Carr R, Siegel I, Greenstein V. Functional abnormalities in vincristine-induced night blindness. Invest Ophthalmol Vis Sci 1984;25:787–794.
Berson E, Lessell S. Paraneoplastic night blindness with malignant melanoma. Am J Ophthalmol 1988;106:307–311.
DuBois L, Sadun A, Lawton T. Inner retinal layer loss in complicated migraine. Arch Ophthalmol 1988;106:1035–1037.
DuBois L, Sadun A, Lawton T. Inner retinal layer loss in complicated migraine. In reply. Arch Ophthalmol 1988;109:175.
Alexander K, Fishman G, Peachey N, et al. “On” response defect in paraneoplastic night blindness with cutaneous malignant melanoma. Invest Ophthalmol Vis Sci 1992;33:477–483
Mackay C, Gouras P, Yamamoti S. S-cone and rod ERGs in paraneoplastic retinal degeneration. Invest Ophthalmol Vis Sci 1992;33:1074.
Andreasson S, Ponjavic V, Ehinger B. Full field electroretinogram in a patient with cutaneous melanoma-associated retinopathy. Acta Ophthalmol 1993;71:487–490.
Kim R, Retsas S, Fitzke F, et al. Cutaneous melanoma-associated retinopathy. Ophthalmology 1994;101:1837–1843.
Milam A, Saari J, Jacobson S, et al. Autoantibodies against retinal bipolar cells in cutaneous melanoma-associated retinopathy. Invest Ophthalmol Vis Sci 1993;34:91–100.
Rush J. Paraneoplastic retinopathy in malignant melanoma. Am J Ophthalmol 1993;115:390–391.
Weinstein J, Kelman S, Bresnick G, Korngluth S. Paraneoplastic retinopathy associated with antiretinal bipolar cell antibodies in cutaneous malignant melanoma. Ophthalmology 1994;101:1236–1243.
Cideciyan A, Jacobson S. Negative electroretinograms in retinitis pigmentosa. Invest Ophthalmol Vis Sci 1993;34:3252–3263.
Kellner U, Brummer S, Foerster M, Wessing A. X-linked congenital retinoschisis. Graefes Arch Clin Exp Ophthalmol 1990;228:432–437.
Kellner U, Foerster M. Cone dystrophies with negative photopic electroretinogram. Br J Ophthalmol 1993;77:404–409.
Ripps H. Night blindness revisited; from man to molecules. Invest Ophthalmol Vis Sci 1982;23:588–609.
Digre EB. Opsoclonus in adults—report of three cases and review of the literature. Neurology 1986;43:1165.
Furman JMR, Eidelman BH, Fromm GH. Spontaneous remission of paraneoplastic ocular flutter and saccadic intrusions. Neurology 1988;38:499–501.
Margo CE, Waltz K. Basal cell carcinoma of the eyelid and periocular skin. Surv Ophthalmol 1993;38:169–192.
Haas AF, Kielty DW. Basal cell carcinoma. In: Mannis MJ, Macasai MS, Huntley AC (eds). Eye and Skin Disease. Philadelphia: Lippincott-Raven, 1996:395–403.
Doxanas MT, Green WR, Iliff CE. Factors in successful surgical management of basal cell carcinoma of the eyelids. Am J Ophthalmol 1981;215:1239–1241.
Vaughn GJ, Dortzbach RK, Gayre GS. Eyelid malig-nancies. In: Yanoff M, Duker JS (eds). Ophthal-mology, 2nd ed, vol 93. Philadelphia: Mosby, 2004:711–719.
Mohs FE. Micrographic surgery for microscopically controlled excision of eyelid tumors. Arch Ophthalmol 1986;104:901–909.
Font RL. Eyelids and lacrimal drainage system. In: Spencer WH (ed). Ophthalmic Pathology: An Atlas and Textbook, 4th ed, vol 4. Philadephia: Saunders, 1996:2218–2443.
Kwitko ML, Bonuik M, Zimmerman LE. Eyelid tumors with reference to lesions confused with squamous cell carcinoma. I. Incidence and errors in diagnosis. Arch Ophthalmol 1963;69:693–697.
Rao NA, Hidayat AA, McLean IW, et al. Sebaceous gland carcinomas of the ocular adnexa: a clinicopathologic study of 104 cases, with five-year follow-up data. Hum Pathol 1982;13:113–122.
Doxanas MT, Green WR. Sebaceous gland carcinoma. Arch Ophthalmol 1984;102:245–249.
Kass LG, Hornblass A. Sebaceous carcinoma of the ocular adnexa. Surv Ophthalmol 1989;33:477–490.
Conill C, Toscas I, Morilla I, et al. Radiation therapy as a curative treatment in extraocular sebaceous carcinoma (Correspondence). Br J Ophthalmol 2003;149(2):441–442.
Yen MT, Tse DT, Wu X, et al. Radiation therapy for local control of eyelid sebaceous cell carcinoma: report of two cases and review of the literature. Ophthal Plast Reconstr Surg 2000;16(3):211–215.
Rhodes AR, Weinstock MA, Ritzpatrick TB, et al. Risk factors for cutaneous melanoma: a practical method of recognizing predisposed individuals. JAMA 1987;258:3146–3154.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2006 Springer Science+Business Media, Inc.
About this chapter
Cite this chapter
Albert, D.M., Feldmann, M., Potter, H., Kumar, A. (2006). Eye, Orbit, and Adnexal Structures. In: Chang, A.E., et al. Oncology. Springer, New York, NY. https://doi.org/10.1007/0-387-31056-8_35
Download citation
DOI: https://doi.org/10.1007/0-387-31056-8_35
Publisher Name: Springer, New York, NY
Print ISBN: 978-0-387-24291-0
Online ISBN: 978-0-387-31056-5
eBook Packages: MedicineMedicine (R0)