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Various Syndromes with Benign Intraocular Tumors

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Intraocular Tumors

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Abstract

A selected group of benign intraocular tumors manifest as a part of neurocutaneous syndromes which are termed as phakomatoses. Most of the syndromes are caused by an underlying genetic defect that is responsible for multiple lesions involving various organ systems. Some ocular tumors are benign, asymptomatic, and serve as an indicator to the underlying disease such as astrocytic hamartoma associated with tuberous sclerosis complex. Some tumors can be locally destructive resulting in loss of vision as in von-Hippel Lindau and Sturge-Weber syndrome. Few ocular lesions may need observation alone and a few require active treatment with various modalities such as laser photocoagulation, photodynamic therapy, radiotherapy or vitreo-retinal surgery. Identification of the ocular disease would prompt periodic screening for systemic involvement to decrease morbidity and mortality associated with these syndromes.

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Change history

  • 14 July 2020

    The original (print and online) version of the book was inadvertently published with incorrect spellings.

References

  1. Hardwig P, Robertson DM. Von Hippel-Lindau disease: a familial, often lethal, multi-system phakomatosis. Ophthalmology. 1984;91:263–70.

    Article  CAS  PubMed  Google Scholar 

  2. Maher ER, Iselius L, Yates JR, Littler M, Benjamin C, Harris R, Sampson J, et al. Von Hippel-Lindau disease: a genetic study. J Med Genet. 1991;28:443–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Lonser RR, Glenn GM, Walther M, Chew EY, Libutti SK, Linehan WM, et al. von Hippel-Lindau disease. Lancet. 2003;361(9374):2059–67.

    Article  CAS  PubMed  Google Scholar 

  4. Turturro F. Beyond the Knudson’s hypothesis in von Hippel-Lindau (VHL) disease- proposing vitronectin as a “gene modifier”. J Mol Med (Berl). 2009;87(6):591–3.

    Article  Google Scholar 

  5. Nordstrom-O’Brien M, van der Luijt RB, van Rooijen E, van den Ouweland AM, Majoor-Krakauer DF, Lolkema MP, et al. Genetic analysis of von Hippel-Lindau disease. Hum Mutat. 2010;31(5):521–37.

    PubMed  Google Scholar 

  6. Chan CC, Vortmeyer AO, Chew EY, Green WR, Matteson DM, Shen DF, et al. VHL gene deletion and enhanced VEGF gene expression detected in the stromal cells of retinal angioma. Arch Ophthalmol. 1999;117(5):625–30.

    Article  CAS  PubMed  Google Scholar 

  7. Kaelin WG Jr. The von Hippel-Lindau gene, kidney cancer, and oxygen sensing. J Am Soc Nephrol. 2003;14(11):2703–11.

    Article  PubMed  Google Scholar 

  8. Maher ER, Yates JR, Harries R, Benjamin C, Harris R, Moore AT, et al. Clinical features and natural history of von Hippel-Lindau disease. MAQ. J Med. 1990;77(283):1151–63.

    CAS  Google Scholar 

  9. Singh A, Shields J, Shields C. Solitary retinal capillary hemangioma: hereditary (von Hippel-Lindau disease) or nonhereditary? Arch Ophthalmol. 2001;119(2):232–4.

    CAS  PubMed  Google Scholar 

  10. Richard S, Chauveau D, Chrétien Y, Beigelman C, Denys A, Fendler JP, et al. Renal lesions and pheochromocytoma in von Hippel-Lindau disease. Adv Nephrol Necker Hosp. 1994;23:1–27.

    CAS  PubMed  Google Scholar 

  11. Varshney N, Kebede AA, Owusu-Dapaah H, Lather J, Kaushik M, Bhullar JSJ, et al. A review of Von Hippel-Lindau syndrome. J Kidney Cancer VHL. 2017;4(3):20–9.

    Article  PubMed  PubMed Central  Google Scholar 

  12. Kanno H, Kobayashi N, Nakanowatari S, et al. Pathological and clinical features and management of central nervous system hemangioblastomas in von Hippel-Lindau disease. J Kidney Cancer VHL. 2014;1(4):46–55.

    Article  PubMed  PubMed Central  Google Scholar 

  13. Maher ER, Neumann HP, Richard S. Von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet. 2011;19(6):617–23.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Wing GL, Weiter JJ, von Kelly PJ. Hippel-Lindau disease. Angiomatosis of the retina and central nervous system. Ophthalmology. 1981;88:1311–4.

    Article  CAS  PubMed  Google Scholar 

  15. Singh AD, Nouri M, Shields CL, Shields JA, Smith AF. Retinal capillary hemangioma: a comparison of sporadic cases and cases associated with von Hippel-Lindau disease. Ophthalmology. 2001;108(10):1907–11.

    Article  CAS  PubMed  Google Scholar 

  16. Shields JA, Shields CL, Deglin E. Retinal capillary haemangioma in Marshall-Stickler syndrome. Am J Ophthalmol. 1997;124:120–2.

    Article  CAS  PubMed  Google Scholar 

  17. Shields JA, Shields CL. A textbook and atlas. Philadelphia: W. B. Saunders; 1992.

    Google Scholar 

  18. Saitta A, Nicolai M, Giovannini A, Mariotti C. Juxtapapillary retinal capillary hemangioma: new therapeutic strategies. Med Hypothesis Discov Innov Ophthalmol. 2014;3:71–5.

    PubMed  PubMed Central  Google Scholar 

  19. Gass JD, Braunstein R. Sessile and exophytic capillary angiomas of the juxtapapillary retina and optic nerve head. Arch Ophthalmol. 1980;98:1790–7.

    Article  CAS  PubMed  Google Scholar 

  20. Shields CL, Materin MA, Shields JA. Review of optical coherence tomography for intraocular tumors. Curr Opin Ophthalmol. 2005;16(3):141–54.

    Article  PubMed  Google Scholar 

  21. Chin EK, Trikha R, Morse LS, Zawadzki RJ, Werner JS, Park SS. Optical coherence tomography findings of exophytic retinal capillary hemangiomas of the posterior pole. Ophthalmic Surg Lasers Imaging. 2010;9:1–5.

    Google Scholar 

  22. Lang SJ, Cakir B, Evers C, Ludwig F, Lange CA, Agostini HT. Value of optical coherence tomography angiography imaging in diagnosis and treatment of hemangioblastomas in von Hippel-Lindau disease. Ophthalmic Surg Lasers Imaging Retina. 2016;47:935–46.

    Article  PubMed  Google Scholar 

  23. Champion KJ, Guinea M, Dammai V, Hsu T. Endothelial function of von Hippel-Lindau tumor suppressor gene: control of fibroblast growth factor receptor signaling. Cancer Res. 2008;68(12):4649–57.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  24. Frantzen C, Klasson TD, Links TP, Giles RH, Adam MP, Ardinger HH, et al. Von Hippel-Lindau syndrome. Seattle: University of Washington; 2000. p. 1993–2017.

    Google Scholar 

  25. Maher ER. Von Hippel-Lindau disease. Curr Mol Med. 2004;4:833–42.

    Article  CAS  PubMed  Google Scholar 

  26. Schmidt D, Natt E, Neumann HP. Long-term results of laser treatment for retinal angiomatosis in von Hippel-Lindau disease. Eur J Med Res. 2000;28:47–58.

    Google Scholar 

  27. Singh AD, Nouri M, Shields CL, Shields JA, Perez N. Treatment of retinal capillary hemangioma. Ophthalmology. 2002;109:1799–806.

    Article  PubMed  Google Scholar 

  28. Parmar DN, Mireskandari K, McHugh D. Transpupillary thermotherapy for retinal capillary hemangioma in von Hippel-Lindau disease. Ophthalmic Surg Lasers. 2000;31:334–6.

    Article  CAS  PubMed  Google Scholar 

  29. Garcia-Arumi J, Sararols LH, Cavero L, Escalada F, Corcostegui BF. Therapeutic options for capillary papillary hemangiomas. Ophthalmology. 2000;107:48–54.

    Article  CAS  PubMed  Google Scholar 

  30. Kreusel KM, Bornfeld N, Lommatzsch A, Wessing A, Foerster MH. Ruthenium-106 brachytherapy for peripheral retinal capillary hemangioma. Ophthalmology. 1998;105:1386–92.

    Article  CAS  PubMed  Google Scholar 

  31. Russo V, Stella A, Barone A, Scott IU, Noci ND. Ruthenium-106 brachytherapy and intravitreal bevacizumab for retinal capillary hemangioma. Int Ophthalmol. 2012;32:71–5.

    Article  PubMed  Google Scholar 

  32. Raja D, Benz MS, Murray TG. Salvage external beam radiotherapy of retinal capillary hemangiomas secondary to von Hippel-Lindau disease: visual and anatomical outcomes. Ophthalmology. 2004;111:150–3.

    Article  PubMed  Google Scholar 

  33. Schmidt-Erfurth UM, Kusserow C, Barbazetto IA, Laqua H. Benefits and complications of photodynamic therapy of papillary capillary hemangiomas. Ophthalmology. 2002;109(7):1256–66.

    Article  PubMed  Google Scholar 

  34. Farah ME, Uno F, Höfling-Lima AL, Morales PH, Costa RA, Cardillo JA. Transretinal feeder vessel ligature in von Hippel-Lindau disease. Eur J Ophthalmol. 2001;11(4):386–8.

    Article  CAS  PubMed  Google Scholar 

  35. McDonald HR, Schatz H, Johnson RN. Vitrectomy in eyes with peripheral retinal angioma associated with traction macular detachment. Ophthalmology. 1996;103:329–35.

    Article  CAS  PubMed  Google Scholar 

  36. Ziemssen F, Voelker M, Inhoffen W, Bartz-Schmidt KU, Gelisken F. Combined treatment of a juxtapapillary retinal capillary haemangioma with intravitreal bevacizumab and photodynamic therapy. Eye (Lond). 2007;21(8):1125–6.

    Article  CAS  Google Scholar 

  37. Wong WT, Liang KJ, Hammel K, Coleman HR, Chew EY. Intravitreal ranibizumab therapy for retinal capillary hemangioblastoma related to von Hippel-Lindau disease. Ophthalmology. 2008;115(11):1957–64.

    Article  PubMed  Google Scholar 

  38. Muthukumar N, Sundaralingam MP. Retinocephalic vascular malformation: case report. Br J Neurosurg. 1998;12(5):458–60.

    Article  CAS  PubMed  Google Scholar 

  39. Wyburn-Mason R. Arteriovenous aneurysm of midbrain and retina, facial nevi and mental changes. Brain Dev. 1943;66:163–203.

    Article  Google Scholar 

  40. Ponce FA, Han PP, Spetzler RF, Canady A, Feiz-Erfan I. Associated arteriovenous malformation of the orbit and brain: a case of Wyburn-Mason syndrome without retinal involvement. Case report. J Neurosurg. 2001;95(2):346–9.

    Article  CAS  PubMed  Google Scholar 

  41. Albert DM, Jakobiec FA, editors. Phakomatoses. In: Principles and practice of ophthalmology, 2nd ed. Philadelphia: W. B. Saunders; 2000. p. 3779.

    Google Scholar 

  42. Goh D, Malik NN, Gilvarry A. Retinal racemose haemangioma directly communicating with a intramuscular facial cavernous haemangioma. Br J Ophthalmol. 2004;88(6):840–2.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  43. Luo CB, Lasjaunias P, Bhattacharya J. Craniofacial vascular malformations in Wyburn-Mason syndrome. J Chin Med Assoc. 2006;69(12):575–80.

    Article  PubMed  Google Scholar 

  44. Wyburn-Mason R. Arteriovenous aneurysm of mid-brain and retina, facial naevi and mental changes. Brain. 1943;66:163–203.

    Article  Google Scholar 

  45. Theron J, Newton TH, Hoyt WF. Unilateral retinocephalic vascular malformations. Neuroradiology. 1974;7:186–96.

    Article  Google Scholar 

  46. Archer DB, Deutman A, Ernest JT, et al. Arteriovenous communications of the retina. Am J Ophthalmol. 1973;75:224–41.

    Article  CAS  PubMed  Google Scholar 

  47. Bernth-Petersen P. Racemose haemangioma of the retina. Report of three cases with long term follow-up. Acta Ophthalmol. 1979;57(4):669–78.

    Article  CAS  Google Scholar 

  48. Mansour AM, Wells AM, Jampol LM, et al. Ocular complications of arteriovenous communications of the retina. Arch Ophthalmol. 1989;107:232–6.

    Article  CAS  PubMed  Google Scholar 

  49. Schatz H, Chang LF, Ober RR, et al. Central retinal vein occlusion associated with retinal arteriovenous malformation. Ophthalmology. 1993;100:24–30.

    Article  CAS  PubMed  Google Scholar 

  50. Papageorgiou KI, Ghazi-Nouri SM, Andreou PS. Vitreous and subretinal haemorrhage; an unusual complication of retinal racemose haemangioma. Clin Exp Ophthalmol. 2006;34:176–7.

    Article  PubMed  Google Scholar 

  51. Barreira AK Jr, Nakashima AF, Takahashi VK, Marques GA, Minelli T, Santo AM. Retinal racemose hemangioma with focal macular involvement. Retin Cases Brief Rep. 2016;10:52–4.

    Article  PubMed  Google Scholar 

  52. Gass JDM. Cavernous hemangioma of the retina. A neuro-oculocutaneous syndrome. Am J Ophthalmol. 1971;71:799–814.

    Article  CAS  PubMed  Google Scholar 

  53. Dubovsky J, Zabramski JM, Kurth J, et al. A gene responsible for cavernous malformations of the brain maps to chromosome 7q. Hum Mol Genet. 1995;4:453–8.

    Article  CAS  PubMed  Google Scholar 

  54. Gunel M, Awad IA, Finberg K, et al. A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans. N Engl J Med. 1996;334:946–51.

    Article  CAS  PubMed  Google Scholar 

  55. Gunel M, Awad IA, Finberg K, et al. Genetic heterogeneity of inherited cerebral cavernous malformation. Neurosurgery. 1996;38:1265–71.

    CAS  PubMed  Google Scholar 

  56. Wallner EF, Moorman LT. Hemangioma of the optic disc. Arch Ophthalmol. 1955;53:115–7.

    Article  Google Scholar 

  57. Sarraf D, Payne AM, Kitchen ND, Sehmi KS, Downes SM, Bird AC. Familial cavernous hemangioma: an expanding ocular spectrum. Arch Ophthalmol. 2000;118(7):969–73.

    CAS  PubMed  Google Scholar 

  58. Lewis RA, Cohen MH, Wise GN. Cavernous haemangioma of the retina and optic disc. A report of three cases and a review of the literature. Br J Ophthalmol. 1975;59(8):422–34.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  59. Drigo P, Mammi I, Battistella PA, et al. Familial cerebral, hepatic, and retinal cavernous angiomas: a new syndrome. Childs Nerv Syst. 1994;10:205–9.

    Article  CAS  PubMed  Google Scholar 

  60. Weskamp C, Cotlier I. Angioma del cerebro y de la retina con malformaciones capilares de la piel. Arch Oftalmol B Aires. 1940;15:1–10.

    Google Scholar 

  61. Zografos L, Gonvers M. Ocular melanocytosis and cavernous haemangioma of the optic disc. Br J Ophthalmol. 1994;78:73–4.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  62. Gunduz K, Ozbayrak N, Okka M, et al. Cavernous hemangioma with cone dysfunction. Ophthalmologica. 1996;210:367–71.

    Article  CAS  PubMed  Google Scholar 

  63. Naftchi S, la Cour M. A case of central visual loss in a child due to macular cavernous haemangioma of the retina. Acta Ophthalmol Scand. 2002;80(5):550–2.

    Article  PubMed  Google Scholar 

  64. Yamaguchi K, Tamai M. Cavernous hemangioma of the retina in a pediatric patient. Ophthalmologica. 1988;197(3):127–9.

    Article  CAS  PubMed  Google Scholar 

  65. Bottoni F, Canevini MP, Canger R, Orzalesi N. Twin vessels in familial retinal cavernous hemangioma. Am J Ophthalmol. 1990;15:285–9.

    Article  Google Scholar 

  66. Haller JA, Knox DL. Vitrectomy for persistent vitreous hemorrhage from a cavernous hemangioma of the optic disk. Am J Ophthalmol. 1993;116(1):106–7.

    Article  CAS  PubMed  Google Scholar 

  67. Shanmugam MP, Ramanjulu R, Dwivedi S, Barigali A, Havanje A. Therapeutic surprise! Photodynamic therapy for cavernous hemangioma of the disc. Indian J Ophthalmol. 2017;65:754–7.

    Article  PubMed  PubMed Central  Google Scholar 

  68. Thomas-Sohl KA, Vaslow DF, Maria BL. Sturge-Weber syndrome: a review. Pediatr Neurol. 2004;30(5):303–10.

    Article  PubMed  Google Scholar 

  69. Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, et al. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med. 2013;368(21):1971–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  70. Rochkind S, Hoffman HJ, Hendrick EB. Sturge-Weber syndrome: natural history and prognosis. J Epilepsy. 1990;3:293–304.

    Google Scholar 

  71. Zanzmera P, Patel T, Shah V. Diagnostic dilemma: Sturge-Weber syndrome, without facial nevus. J Neurosci Rural Pract. 2015;6(1):105–7.

    Article  PubMed  PubMed Central  Google Scholar 

  72. Piram M, Lorette G, Sirinelli D, Herbreteau D, Giraudeau B, Maruani A. Sturge-Weber syndrome in patients with facial port-wine stain. Pediatr Dermatol. 2012;29:32–7.

    Article  PubMed  Google Scholar 

  73. Ch'ng S, Tan ST. Facial port-wine stains - clinical stratification and risks of neuro-ocular involvement. J Plast Reconstr Aesthet Surg. 2008;61:889–93.

    Article  PubMed  Google Scholar 

  74. Higueros E, Roe E, Granell E, Baselga E. Sturge-Weber syndrome: a review. Actas Dermosifiliogr. 2017;108(5):407–17.

    Article  CAS  PubMed  Google Scholar 

  75. Zhao Y, Tu P, Zhou G, Zhou Z, Lin X, Yang H, et al. Hemoporfin photodynamic therapy for port-wine stain: a randomized controlled trial. PLoS One. 2016;11:e0156219.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  76. Enjolras O, Riche MC, Merland JJ. Facial port-wine stains and Sturge-Weber syndrome. Pediatrics. 1985;76(1):48–51.

    CAS  PubMed  Google Scholar 

  77. Mantelli F, Bruscolini A, La Cava M, Abdolrahimzadeh S, Lambiase A. Ocular manifestations of Sturge-Weber syndrome: pathogenesis, diagnosis, and management. Clin Ophthalmol. 2016;10:871–8.

    PubMed  PubMed Central  Google Scholar 

  78. Weiss JS, Richt R. Glaucoma in phakomatoses. The glaucomas. St. Louis: C. V. Mosby; 1996. p. 899–924.

    Google Scholar 

  79. Stevenson RF, Morin JD. Ocular findings in nevus flammeus. Can J Ophthalmol. 1975;10:136–9.

    CAS  PubMed  Google Scholar 

  80. Sullivan TJ, Clarke MP, Morin JD. The ocular manifestations of the Sturge-Weber syndrome. J Pediatr Ophthalmol Strabismus. 1992;29(6):349–56.

    Article  CAS  PubMed  Google Scholar 

  81. Susac JO, Smith JL, Scufo RJ. The “tomato catsup fundus” in the Sturge Weber syndrome. Arch Ophthalmol. 1974;92:69–70.

    Article  CAS  PubMed  Google Scholar 

  82. Addison PK, Papadopoulos M, Nischal KK, Hykin PG. Serous retinal detachment induced by topical bimatoprost in a patient with Sturge Weber syndrome. Eye (Lond). 2011;25:124–5.

    Article  CAS  Google Scholar 

  83. Tsipursky MS, Golchet PR, Jampol LM. Photodynamic therapy of choroidal hemangioma in Sturge-Weber syndrome, with a review of treatments for diffuse and circumscribed choroidal hemangioma. Surv Ophthalmol. 2011;56:68–85.

    Article  PubMed  Google Scholar 

  84. Alberti W. Radiotherapy of choroidal haemangioma. Int J Radiat Oncol Biol Phys. 1986;12:122–3.

    Article  Google Scholar 

  85. Arepalli S, Shields CL, Kaliki S, Emrich J, Komamicky L, Shields JA. Diffuse choroidal hemangioma management with plaque radiotherapy in 5 cases. Ophthalmology. 2013;120:2358–9.

    Article  PubMed  Google Scholar 

  86. Arevalo JF, Arias JD, Serrano MA. Oral propranolol for exudative retinal detachment in diffuse choroidal hemangioma. Arch Ophthalmol. 2011;129:1373–5.

    Article  PubMed  Google Scholar 

  87. Shoeibi N, Ahmadieh H, Abrishami M, Poorzand H. Rapid and sustained resolution of serous retinal detachment in Sturge-Weber syndrome after single injection of intravitreal bevacizumab. Ocul Immunol Inflamm. 2011;19:358–60.

    Article  CAS  PubMed  Google Scholar 

  88. Garcia-Arumi J, Ramsay LS, Guraya BC. Trans pupillary thermotherapy for circumscribed choroidal hemangiomas. Ophthalmology. 2000;107:351–7.

    Article  CAS  PubMed  Google Scholar 

  89. Kamal A, Watts AR, Rennie IG. Indocyanine green enhanced transpupillary thermotherapy of circumscribed choroidal haemangioma. Eye (Lond). 2000;5:701–5.

    Article  Google Scholar 

  90. Gunduz K. Transpupillary thermotherapy in the management of circumscribed choroidal hemangioma. Surv Ophthalmol. 2004;49(3):316–27.

    Article  PubMed  Google Scholar 

  91. Ong T, Chia A, Nischal KK. Latanoprost in port wine stain related paediatric glaucoma. Br J Ophthalmol. 2003;87:1091–3.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  92. Yang CB, Freedman SF, Myers JS, et al. Use of latanoprost in the treatment of glaucoma associated with Sturge-Weber syndrome. Am J Ophthalmol. 1998;126:600–2.

    Article  CAS  PubMed  Google Scholar 

  93. Sakai H, Sakima N, Nakamura Y, Nakamura Y, Hayakawa K, Sawaguchi S. Ciliochoroidal effusion induced by topical latanoprost in a patient with Sturge-Weber syndrome. Jpn J Ophthalmol. 2002;46(5):553–5.

    Article  PubMed  Google Scholar 

  94. Gambrelle J, Denis P, Kocaba V, Grange JD. Uveal effusion induced by topical travoprost in a patient with Sturge-Weber-Krabbe syndrome. J Fr Ophtalmol. 2008;31(9):e19.

    Article  CAS  PubMed  Google Scholar 

  95. Wiederholt WC, Gomez MR, Kurland LT. Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950 through 1982. Neurology. 1985;35(4):600–3.

    Article  CAS  PubMed  Google Scholar 

  96. Huang J, Manning BD. The TSC1-TSC2 complex: a molecular switchboard controlling cell growth. Biochem J. 2008;412(2):179–90.

    Article  CAS  PubMed  Google Scholar 

  97. Cohen MM, Pollock-BarZiv S, Johnson SR. Emerging clinical picture of lymphangioleiomyomatosis. Thorax. 2005;60(10):875–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  98. Cohen MM, Pollock-BarZiv S, Johnson SR. Tuberous sclerosis complex-associated kidney angiomyolipoma: from contemplation to action. Nephrol Dial Transplant. 2013;28(7):1680–5.

    Article  Google Scholar 

  99. Pirson Y. Cutaneous manifestations of tuberous sclerosis. Ochsner J. 2010;10:200–4.

    Google Scholar 

  100. Franz DN, Bissler JJ, McCormack FX. Tuberous sclerosis complex: neurological, renal and pulmonary manifestations. Neuropediatrics. 2010;41(5):199–208.

    Article  CAS  PubMed  Google Scholar 

  101. Krueger DA, Northrup H, International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013;49(4):255–65.

    Article  PubMed  PubMed Central  Google Scholar 

  102. Rowley SA, O’Callaghan FJ, Osborne JP. Ophthalmic manifestations of tuberous sclerosis: a population based study. Br J Ophthalmol. 2001;85(4):420–3.

    CAS  PubMed  PubMed Central  Google Scholar 

  103. Nyboer JH, Robertson DM, Gomez MR. Retinal lesions in tuberous sclerosis. Arch Ophthalmol. 1976;94(8):1277–80.

    Article  CAS  PubMed  Google Scholar 

  104. Brown CG, Shields JA. Tumors of the optic nerve head. Surv Ophthalmol. 1985;29:239–64.

    Article  CAS  PubMed  Google Scholar 

  105. Atkinson A, Sanders MD, Wong V. Vitreous haemorrhage in tuberous sclerosis. Br J Ophthalmol. 1973;57:773–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  106. Lopez JP, Ossandón D, Miller P, Sánchez L, Winter A. Unilateral eyelid angiofibroma with complete blepharoptosis as the presenting sign of tuberous sclerosis. J AAPOS. 2009;13(4):413–4.

    Article  PubMed  Google Scholar 

  107. Robertson DM. Ophthalmic manifestations of tuberous sclerosis. Ann N Y Acad Sci. 1991;615:17–25.

    Article  CAS  PubMed  Google Scholar 

  108. Shields CL, Benevides R, Materin MA, Shields JA. Optical coherence tomography of retinal astrocytic hamartoma in 15 cases. Ophthalmology. 2006;113(9):1553–7.

    Article  PubMed  Google Scholar 

  109. Soliman W, Larsen M, Sander B, Wegener M, Milea D. Optical coherence tomography of astrocytic hamartomas in tuberous sclerosis. Acta Ophthalmol Scand. 2007;85(4):454–5.

    Article  PubMed  Google Scholar 

  110. Xu L, Burke TR, Greenberg JP, Mahajan VB, Tsang SH. Infrared imaging and optical coherence tomography reveal early-stage astrocytic hamartomas not detectable by fundoscopy. Am J Ophthalmol. 2012;153(5):883–9.

    Article  PubMed  PubMed Central  Google Scholar 

  111. Vrabec TR, Augsburger JJ. Exudative retinal detachment due to small noncalcified retinal astrocytic hamartoma. Am J Ophthalmol. 2003;136(5):952–4.

    Article  PubMed  Google Scholar 

  112. Bloom SM, Mahl CF. Photocoagulation for serous detachment of the macula secondary to retinal astrocytoma. Retina. 1991;11:416–22.

    Article  CAS  PubMed  Google Scholar 

  113. Mennel S, Hausmann N, Meyer CH, Peter S. Photodynamic therapy for exudative hamartoma in tuberous sclerosis. Arch Ophthalmol. 2006;124(4):597–9.

    Article  PubMed  Google Scholar 

  114. Saito W, Kase S, Ohgami K, Mori S, Ohno S. Intravitreal anti-vascular endothelial growth factor therapy with bevacizumab for tuberous sclerosis with macular oedema. Acta Ophthalmol. 2010;88(3):377–80.

    Article  PubMed  Google Scholar 

  115. Shields JA, Eagle RC Jr, Shields CL, Marr BP. Aggressive retinal astrocytomas in 4 patients with tuberous sclerosis complex. Arch Ophthalmol. 2005;123(6):856–63.

    Article  PubMed  Google Scholar 

  116. Eskelin S, Tommila P, Palosaari T, Kivelä T. Photodynamic therapy with verteporfin to induce regression of aggressive retinal astrocytomas. Acta Ophthalmol. 2008;86(7):794–9.

    Article  PubMed  Google Scholar 

  117. Tomida M, Mitamura Y, Katome T, Eguchi H, Naito T, Harada T. Aggressive retinal astrocytoma associated with tuberous sclerosis. Clin Ophthalmol. 2012;6:715–20.

    CAS  PubMed  PubMed Central  Google Scholar 

  118. Jett K, Friedman JM. Clinical and genetic aspects of neurofibromatosis 1. Genet Med. 2010;12(1):1–11.

    Article  PubMed  Google Scholar 

  119. Riccardi VM. Neurofibromatosis: past, present, and future. N Engl J Med. 1991;324(18):1283–5.

    Article  CAS  PubMed  Google Scholar 

  120. Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol. 2014;13(8):834–43.

    Article  PubMed  Google Scholar 

  121. Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol. 1988;45(5):575–8.

    Google Scholar 

  122. Carey JC. Neurofibromatosis-Noonan syndrome. Am J Med Genet. 1998;75(3):263–4.

    Article  CAS  PubMed  Google Scholar 

  123. Huson MS, Hughes CRA. The neurofibromatoses: a pathogenetic and clinical overview. London: Chapman & Hall; 1994.

    Google Scholar 

  124. Abdolrahimzadeh S, Felli L, Plateroti R, Plateroti AM, Giustini S, Calvieri S, et al. Morphologic and vasculature features of the choroid and associated choroid-retinal thickness alterations in neurofibromatosis type 1. Br J Ophthalmol. 2015;99(6):789–93.

    Article  PubMed  Google Scholar 

  125. Recupero SM, Plateroti R, Abdolrahimzadeh S, et al. Lisch nodules in neurfibromatosis type 1: relationship to age and cutaneous neurfibromas. Ann Ophthalmol Glaucoma. 1996;28(3):178–83.

    Google Scholar 

  126. Ragge NK, Falk RE, Cohen WE, Murphree AL. Images of Lisch nodules across the spectrum. Eye (Lond). 1993;7:95–101.

    Article  Google Scholar 

  127. Cassiman C, Legius E, Spileers W, Casteels I. Ophthalmological assessment of children with neurofibromatosis type 1. Eur J Pediatr. 2013;172(10):1327–33.

    Article  PubMed  Google Scholar 

  128. Destro M, D’Amico DJ, Gragoudas ES, Brockhurst RJ, Pinnolis MK, Albert DM, et al. Retinal manifestations of neurofibromatosis. Diagnosis and management. Arch Ophthalmol. 1991;109(5):662–6.

    Article  CAS  PubMed  Google Scholar 

  129. Ruggieri M, Pavone P, Polizzi A, Di Pietro M, Scuderi A, Gabriele A, et al. Ophthalmological manifestations in segmental neurofibromatosis type 1. Br J Ophthalmol. 2004;88(11):1429–33.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  130. Abdolrahimzadeh S, Piraino DC, Plateroti R, Scuderi G, Recupero SM. Ocular alterations in a rare case of segmental neurofibromatosis type 1 with a non-classified mutational variant of the NF-1 gene. Ophthalmic Genet. 2016;37(2):214–6.

    Article  CAS  PubMed  Google Scholar 

  131. Font RL, Moura RA, Shetlar DJ, Martinez JA, McPherson AR. Combined hamartoma of sensory retina and retinal pigment epithelium. Retina. 1989;9(4):302–11.

    Article  CAS  PubMed  Google Scholar 

  132. Helbig H, Niederberger H. Presumed combined hamartoma of the retina and retinal pigment epithelium with preretinal neovascularization. Am J Ophthalmol. 2003;136(6):1157–9.

    Article  PubMed  Google Scholar 

  133. Moschos M, Ladas ID, Zafirakis PK, Kokolakis SN, Theodossiadis GP. Recurrent vitreous hemorrhages due to combined pigment epithelial and retinal hamartoma: natural course and indocyanine green angiographic findings. Ophthalmologica. 2001;215(1):66–9.

    Article  CAS  PubMed  Google Scholar 

  134. Kahn D, Goldberg MF, Jednock N. Combined retinal-retina pigment epithelial hamartoma presenting as a vitreous hemorrhage. Retina. 1984;4:40–3.

    Article  CAS  PubMed  Google Scholar 

  135. Schachat AP, Shields JA, Fine SL, et al. Combined hamartomas of the retina and retinal pigment epithelium. Ophthalmology. 1984;91:1609–15.

    Article  CAS  PubMed  Google Scholar 

  136. Mason JO, Kleiner R. Combined hamartoma of the retina and retinal pigment epithelium associated with epiretinal membrane and macular hole. Retina. 1997;17:160–2.

    PubMed  Google Scholar 

  137. Verma L, Venkatesh P, Lakshmaiah CN, Tewari HK. Combined hamartoma of the retina and retinal pigment epithelium with full thickness retinal hole and without retinoschisis. Ophthalmic Surg Lasers. 2000;31(5):423–6.

    Article  CAS  PubMed  Google Scholar 

  138. Ryan SJ. Combined hamartoma of the retina and retinal pigment epithelium. In: Retina. St. Louis: Mosby; 2001. p. 640–6.

    Google Scholar 

  139. McDonald HR, Abrams GW, Burke JM, Neuwirth J. Clinicopathologic results of vitreous surgery for epiretinal membranes in patients with combined retinal and retinal pigment epithelial hamartomas. Am J Ophthalmol. 1985;100:806–13.

    Article  CAS  PubMed  Google Scholar 

  140. Sappenfield DL, Gitter KA. Surgical intervention for combined retinal-retinal pigment epithelial hamartoma. Retina. 1990;10(2):119–24.

    Article  CAS  PubMed  Google Scholar 

  141. Stallman JB. Visual improvement after pars plana vitrectomy and membrane peeling for vitreoretinal traction associated with combined hamartoma of the retina and retinal pigment epithelium. Retina. 2002;22(1):101–4.

    Article  PubMed  Google Scholar 

  142. Kushner BJ. Functional amblyopia associated with organic ocular disease. Am J Ophthalmol. 1981;91:39–45.

    Article  CAS  PubMed  Google Scholar 

  143. Inoue M, Noda K, Ishida S, Yamaguchi T, Nagai N, Shinoda K, et al. Successful treatment of subfoveal choroidal neovascularization associated with combined hamartoma of the retina and retinal pigment epithelium. Am J Ophthalmol. 2004;138(1):155–6.

    Article  PubMed  Google Scholar 

  144. Vianna RN, Pacheco DF, Vasconcelos MM, de Laey JJ. Combined hamartoma of the retina and retinal pigment epithelium associated with neurofibromatosis type-1. Int Ophthalmol. 2001;24(2):63–6.

    Article  CAS  PubMed  Google Scholar 

  145. De Potter P, Stanescu D, Caspers-Velu L, Hofmans A. Photo essay: combined hamartoma of the retina and retinal pigment epithelium in Gorlin syndrome. Arch Ophthalmol. 2000;118(7):1004–5.

    PubMed  Google Scholar 

  146. Stupp T, Pavlidis M, Bochner T, Thanos S. Poland anomaly associated with ipsilateral combined hamartoma of retina and retinal pigment epithelium. Eye (Lond). 2004;18(5):550–2.

    Article  CAS  Google Scholar 

  147. Demirci H, Shields CL, Shields JA. New ophthalmic manifestations of branchio-oculo-facial syndrome. Am J Ophthalmol. 2005;139(2):362–4.

    Article  PubMed  Google Scholar 

  148. Arepalli S, Pellegrini M, Ferenczy SR, Shields CL. Combined hamartoma of the retina and retinal pigment epithelium: findings on enhanced depth imaging optical coherence tomography in eight eyes. Retina. 2014;34(11):2202–7.

    Article  PubMed  Google Scholar 

  149. Fonseca RA, Dantas MA, Kaga T, Spaide RF. Combined hamartoma of the retina and retinal pigment epithelium associated with juvenile nasopharyngeal angiofibroma. Am J Ophthalmol. 2001;132(1):131–2.

    Article  CAS  PubMed  Google Scholar 

  150. Tulchinsky H, Keidar A, Strul H, et al. Extracolonic manifestations of familial adenomatous polyposis after proctocolectomy. Arch Surg. 2005;140(2):159–63.

    Article  PubMed  Google Scholar 

  151. Amin AR, Jakobiec FA, Dreyer EB. Ocular syndromes associated with systemic malignancy. Int Ophthalmol Clin. 1997;37:281–302.

    Article  CAS  PubMed  Google Scholar 

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  1. Department of Vitreo-Retina and Ocular Oncology, Sankara Eye Hospital, Bangalore, India

    Mahesh Shanmugam Palanivelu & Pradeep Sagar

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  1. Mahesh Shanmugam Palanivelu
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  1. Sankara Nethralaya, Chennai, Tamil Nadu, India

    Vikas Khetan

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Palanivelu, M.S., Sagar, P. (2020). Various Syndromes with Benign Intraocular Tumors. In: Khetan, V. (eds) Intraocular Tumors. Springer, Singapore. https://doi.org/10.1007/978-981-15-0395-5_15

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