VON HIPPEL-LINDAU DISEASE: THE CLINICAL MANIFESTATIONS AND GENETIC ANALYSIS RESULTS OF TWO CASES FROM A SINGLE FAMILY
Kinyas S1, Ozal SA1,*, Guclu H1, Gurlu V1, Esgin H1, Gurkan H2
*Corresponding Author: Dr. Sadık Altan Ozal, Trakya Üniversitesi Tıp Fakültesi, Göz Hastalıkları Anabilim Dalı, Edirne 22030, Turkey. Tel: +90-505-450-42-67. Fax: +90-284-223-55-06. E-mail: altanozal@hotmail.com
page: 65

REFERENCES

1. Maher ER, Yates JR, Harries R, Benjamin C, Harris R, Moore AT, et al. Clinical features and natural history of von Hippel-Lindau disease. Q J Med. 1990; 77(283): 1151-1163. 2. Singh AD, Shields CL, Shields JA. von Hippel- Lindau disease. Surv Ophtalmol. 2001; 46(2): 117-142. 3. Kreusel KM, Bechrakis NE, Krause L, Neumann HP, Foerster MH. Retinal angiomatosis in von Hippel-Lindau disease: A longitudinal ophthalmologic study. Ophthalmology. 2006; 113(8): 1418-1424. 4. Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, et al. Identification of the von Hippel- Lindau disease tumor suppressor gene. Science. 1993; 260(5112): 1317-1320. 5. Woodward ER, Buchberger A, Clifford SC, Hurst LD, Affara NA, Maher ER. Comparative sequence analysis of the VHL suppressor gene. Genomics. 2000; 65(3): 253-265. 6. Harbour JW. Tumor suppressor genes in ophthalmology. Surv Ophthalmol. 1999; 44(3): 235-246. 7. Wong WT, Agron E, Coleman HR, Reed GF, Csaky K, Peterson J, et al. Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis. Arch Ophthalmol. 2007; 125(2): 239-245. 8. Welch RB. Fluorescein angiography in sicklecell retinopathy and von Hippel-Lindau disease. Int Ophthalmol Clin. 1977; 17(2): 137-154. 9. Sato A, Fukui E, Ohta K. Retinoschisis detected by spectral-domain optical coherence tomography in von Hippel-Lindau disease. Retin Cases Brief Rep. 2012; 6(3): 317-319. 10. Hes FJ, van der Luijt RB, Janssen AL, Zewald RA, de Jong GJ, Lenders JW, et al. Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification. Clin Genet. 2007; 72(2): 122-129. 11. Chew EY. Ocular manifestations of von Hippel- Lindau disease: Clinical and genetic investigations. Trans Am Ophthalmol Soc. 2005; 103: 495-511.



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