The eye and phacomatoses

British Journal of Hospital Medicine

Volumn 72, Issue 12, 2011, Pages 677-681

  Joshi, Lavnish ^a   Taylor, Simon Rj ^a   Lightman, Sue ^b  

^a The National Institute for Health Research Health Protection Research Unit in Blood Borne and Sexually Transmitted Infections at University College London in partnership with UK Health Security Agency   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 83755185539     PISSN: 17508460     EISSN: None     Source Type: Journal    
DOI: 10.12968/hmed.2011.72.12.677     Document Type: Conference Paper

References (20)

1. Albers AC, Gutmann DH (2009) Gliomas in patients with neurofibromatosis type 1. Expert Rev Neurother 9(4): 535-9
2. Comi AM (2011) Presentation, diagnosis, pathophysiology, and treatment of the neurological features of Sturge-Weber syndrome. Neurologist 17(4): 179-84
3. Curatolo P, Bombardieri R, Jozwiak S (2008) Tuberous sclerosis. The Lancet 372(9639): 657-68
4. Dollfus H, Massin P, Taupin P et al (2002) Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. Invest Ophthalmol Vis Sci 43(9): 3067-74 (Pubitemid 34977061)
5. Ferner RE (2010) The neurofibromatoses. Pract Neurol 10(2): 82-93
6. Kerrison JB (2000) Neuro-ophthalmology of the phacomatoses. Curr Opin Ophthalmol 11(6): 413-20
7. Listernick R, Ferner RE, Liu GT, Gutmann DH (2007) Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations. Ann Neurol 61(3): 189-98 (Pubitemid 46557343)
8. Lonser RR, Glenn GM, Walther M et al (2003) von Hippel-Lindau disease. Lancet 361(9374): 2059-67 (Pubitemid 36695052)
9. Maher ER, Neumann HP, Richard S (2011) von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet 19(6): 617-23
10. Mavrou A, Tsangaris GT, Roma E, Kolialexi A (2008) The ATM gene and ataxia telangiectasia. Anticancer Res 28(1B): 401-5 (Pubitemid 351362844)
11. Nowak CB (2007) The phakomatoses: dermatologic clues to neurologic anomalies. Semin Pediatr Neurol 14(3): 140-9 (Pubitemid 350008076)
12. Rakowski SK, Winterkorn EB, Paul E, Steele DJ, Halpern EF, Thiele EA (2006) Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors. Kidney Int 70(10): 1777-82 (Pubitemid 44684809)
13. Reynolds RM, Browning GG, Nawroz I, Campbell IW (2003) Von Recklinghausen's neurofibromatosis: neurofibromatosis type 1. Lancet 361(9368): 1552-4 (Pubitemid 36566351)
14. Rowley SA, O'Callaghan FJ, Osborne JP (2001) Ophthalmic manifestations of tuberous sclerosis: a population based study. Br J Ophthalmol 85(4): 420-3 (Pubitemid 32275621)
15. Sarraf D, Payne AM, Kitchen ND, Sehmi KS, Downes SM, Bird AC (2000). Familial cavernous hemangioma: An expanding ocular spectrum. Arch Ophthalmol 118(7): 969-73 (Pubitemid 30460637)
16. Schmidt D, Pache M, Schumacher M (2008) The congenital unilateral retinocephalic vascular malformation syndrome (Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome): review of the literature. Surv Ophthalmol 53(3): 227-49 (Pubitemid 351685720)
17. Stricker TP, Kumar V (2010) Neoplasia. In: Kumar V, Abbas AK, Nelson F, Aster JC, eds. Robbins and Cotron Pathologic Basis of Disease. 8th edn. Saunders Elsevier, Philadelphia: 259-330
18. Sujansky E, Conradi S (1995) Outcome of Sturge-Weber syndrome in 52 adults. Am J Med Genet 57(1): 35-45
19. Wong WT, Chew EY (2008) Ocular von Hippel-Lindau disease: clinical update and emerging treatments. Curr Opin Ophthalmol 19(3): 213-17 (Pubitemid 351535917)
20. Wong WT, Liang KJ, Hammel K, Coleman HR, Chew EY (2008) Intravitreal ranibizumab therapy for retinal capillary hemangioblastoma related to von Hippel-Lindau disease. Ophthalmology 115(11): 1957-64