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

DISCUSSION

Fundus fluorescein angiography is the most informative diagnostic method because of the vascular nature of a RH. Fluorescein is apparent in the dilated feeding artery in the arterial phase, and the drainage vein becomes apparent in the venous phase, while the tumor demonstrates progressive hyperfluorescence with late leakage of dye into the surrounding structures [8]. In the two cases in this study, FFA examination showed that the typical feeding artery and drainage vein of the RH in the early-phase, and fluo-rescein leakage in the late-phase, was due to the vascular endothelial failure of the tumor. The OCT findings in VHL have been published [9]. These include retinoschisis, epiretinal membranes, macular oedema and serous detachment. Optical coherence tomography demonstrated a foveal detachment in Case 1. The foveal detachment was due to fluid accumulation and macular oedema. Hyper reflectance was also observed under the cross-section of the RH upon OCT examination in Case 2. The authors consider that OCT is a useful diagnostic method in RH because it allows for the evaluation of peripheral tumors and macular complications, such as macular oedema, foveal detachment and epiretinal membranes. Although RHs show a slow-growing pattern and are sometimes quiescent, they may lead to significant vision loss by causing cystoid macular oedema, and exudative and tractional retinal detachment [3]. It was believed that the primary reason for the vision loss in Case 1 was foveal detachment. The RH was close to the posterior pole in Case 1. In Case 2, the primary reason for the vision loss was optic nerve atrophy. The CNS hemangioblastoma operation may have led to optic nerve atrophy and vision loss in Case 2. Retinal hemangioblastomas were at the equator of the eye in Case 2. Germline mutations as a result of single nucleotide changes that were detected in these cases (c.202T>C, p.Ser68Pro) are reported in only two other cases in the literature [10] but, in these cases, no systemic involvement except RH was detected. The other details of these cases have not been mentioned in the literature. Although these two cases had the same mutation, renal involvement was detected in both cases and also CNS involvement in Case 2, in addition to RH. Life-threatening diseases such as VHL can be diagnosed by ophthalmologists. The life expectancy of VHL patients is below the age of 50 because of RCC and CNS hemangioblastoma complications [11]. von Hippel-Lindau disease is a familial cancer syndrome; patients with VHL and at-risk family members of these patients should be followed by periodic screening programs and genetic analyses. Eventually, the development of early diagnosis methods in VHL, such as genetic analysis, may provide both superior visual prognosis and life expectancy. In conclusion, VHL patients who had a germline mutation resulting from a single nucleotide change in the VHL gene (c.202 T>C, p.Ser68Pro) missense mutation may have renal and CNS involvement, in addition to RH.



Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Accepted articles
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Accepted articles
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006