Home Print this page Email this page
Users Online: 289


 
 Table of Contents  
CASE REPORT
Year : 2013  |  Volume : 5  |  Issue : 2  |  Page : 90-92

Von Hippel Lindau disease with exudative retinal detachment and retinal hemangioma


Department of Ophthalmology, Dr. D. Y. Patil Medical College & Hospital, Pune, Maharashtra, India

Date of Web Publication10-Jan-2014

Correspondence Address:
Akash P Shah
Dr. D. Y. Patil Medical College & Hospital, Pune, Maharashtra
India
Login to access the Email id

DOI: 10.4103/1858-540X.124849

Rights and Permissions
  Abstract 

Von Hippel Lindau (VHL) disease is a rare multisystem autosomal dominant disease characterized by retinal, cerebellum and spinal cord hemangioblastomas, renal cell carcinomas, adrenal pheochromocytomas, angiomatous or cystic lesions of the kidneys and pancreas. Early detection and treatment of VHL disease may prevent loss of vision and loss of life. We report a case of VHL disease in a 34-year-old male who presented to us with a massive exudative retinal detachment with multiple hemangiomas in right eye and peripheral angioma with regressed papillomacular bundle angioma in left eye. Vision in the right eye was already lost. He had mass in head region of pancreas, cholelithiasis and right renal cortical cyst. Patient had undergone bilateral adrenalectomy for pheochromocytoma, craniotomy for cerebellar hemangioma and photodynamic therapy in left eye for papillomacular bundle angioma.

Keywords: Retinal detachment, retinal hemangioma, von hippel lindau disease


How to cite this article:
Magdum RM, Shah AP, Patil PP, Patel K. Von Hippel Lindau disease with exudative retinal detachment and retinal hemangioma. Sudanese J Ophthalmol 2013;5:90-2

How to cite this URL:
Magdum RM, Shah AP, Patil PP, Patel K. Von Hippel Lindau disease with exudative retinal detachment and retinal hemangioma. Sudanese J Ophthalmol [serial online] 2013 [cited 2020 Sep 21];5:90-2. Available from: http://www.sjopthal.net/text.asp?2013/5/2/90/124849


  Introduction Top


Von Hippel Lindau (VHL) disease is a rare multisystem autosomal dominant disease characterized by retinal, cerebellum and spinal cord hemangioblastomas, renal cell carcinomas, adrenal pheochromocytomas, angiomatous or cystic lesions of the kidneys and pancreas. Its incidence is one in 36,000 births.


  Case Report Top


A 34-year-old man was presented to us with loss of vision in right eye for 5 years and diminution of vision in left eye for 8 years. He underwent bilateral adrenalectomy for pheochromocytoma in 1998. He underwent for craniotomy for cerebellar hemangioma. He had received photodynamic therapy (PDT) in left eye for hemangioma 5 years back. He was on tablet prednisolone 5 mg for 15 years. His best corrected distant vision in left eye is 6/9 and near vision is N6. His intraocular pressure is 12.2 mmHg in right eye and 14.6 mmHg in left eye. Anterior segment examination was within normal limit. On fundus examination with slit lamp with 90 D, right eye fundus show extensive exudative retinal detachment with multiple hemangiomas [Figure 1]. On left eye fundus examination, there was regressive papillomacular bundle hemangioma [Figure 2] and hemangioma on superotemporal and inferotemporal to optic disc. On computed tomography scan and ultrasound sonography of abdomen and pelvis, there was a mass in head region of pancreas [Figure 3], cholelithiasis and right renal cortical cyst [Figure 4].
Figure 1: Right eye fundus photograph showing extensive exudative retinal detachment with multiple hemangiomas

Click here to view
Figure 2: Left eye fundus photograph showing regressive papillomacular bundle hemangioma

Click here to view
Figure 3: Ultrasonography showing mass in head region of pancreas

Click here to view
Figure 4: Computed tomography scan of right kidney showing right renal cortical cyst

Click here to view



  Discussion Top


VHL disease is a rare autosomal dominant disorder involving retina, central nervous system and other visceral organs. Retinal capillary hemangioma is the early detectable finding. Early and prompt detection and treatment of tumor involving retina and other organs can save the vision and life also. Of more than 25 distinct lesions that have been identified, non-ophthalmic involvement commonly produce significant morbidity, cerebellar 69% medullary 11% and spinal hemangioblastoma; renal cell carcinoma 22% and pheochromocytoma 3%. [1] PDT has been tried in cases of retinal angiomatosis with varying success [2],[3],[4],[5],[6] PDT with verteporfin has been known to be a safe and an effective treatment of sub-retinal neovascularization. [7] This therapy has been tried in cases of angiomatosis retinae in VHL disease. [2],[3],[4],[5] It has been hypothesized that as verteporfin targets vascular endothelial cells, [6],[8] there may be selective affinity for verteporfin in the leading pathological capillaries of hemangioma. In the present case multiple retinal angiomas in left eye, which were resistant to cryopexy, laser photocoagulation (532 nm) and transpupillary thermotherapy was successfully treated with verteporfin and PDT. The angiomas regressed completely, without any post-treatment complication with a sustained 20/30 vision in left eye.

 
  References Top

1.Khare MK, Varma R. Von Hippel Lindau disease. Indian J Ophthalmol 1988;36:46-7.  Back to cited text no. 1
[PUBMED]  Medknow Journal  
2.Bakri SJ, Sears JE, Singh AD. Transient closure of a retinal capillary hemangioma with verteporfin photodynamic therapy. Retina 2005;25:1103-4.  Back to cited text no. 2
[PUBMED]    
3.Szabó A, Géhl Z, Seres A. Photodynamic (verteporfin) therapy for retinal capillary haemangioma, with monitoring of feeder and draining blood vessel diameters. Acta Ophthalmol Scand 2005;83:512-3.  Back to cited text no. 3
    
4.Aaberg TM Jr, Aaberg TM Sr, Martin DF, Gilman JP, Myles R. Three cases of large retinal capillary hemangiomas treated with verteporfin and photodynamic therapy. Arch Ophthalmol 2005;123:328-32.  Back to cited text no. 4
    
5.Rodriguez-Coleman H, Spaide RF, Yannuzzi LA. Treatment of angiomatous lesions of the retina with photodynamic therapy. Retina 2002;22:228-32.  Back to cited text no. 5
[PUBMED]    
6.Schmidt-Erfurth U, Hasan T, Gragoudas E, Michaud N, Flotte TJ, Birngruber R. Vascular targeting in photodynamic occlusion of subretinal vessels. Ophthalmology 1994;101:1953-61.  Back to cited text no. 6
[PUBMED]    
7.Bhattacharjee H, Deka H, Deka S, Barman MJ, Mazumdar M, Medhi J. Verteporfin photodynamic therapy of retinal capillary hemangioblastoma in von Hippel-Lindau disease. Indian J Ophthalmol 2010;58:73-5.  Back to cited text no. 7
[PUBMED]  Medknow Journal  
8.Schmidt-Erfurth U, Laqua H, Schlötzer-Schrehard U, Viestenz A, Naumann GO. Histopathological changes following photodynamic therapy in human eyes. Arch Ophthalmol 2002;120:835-44.  Back to cited text no. 8
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

Top
 
 
  Search
 
Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
Access Statistics
Email Alert *
Add to My List *
* Registration required (free)

 
  In this article
Abstract
Introduction
Case Report
Discussion
References
Article Figures

 Article Access Statistics
    Viewed2743    
    Printed143    
    Emailed0    
    PDF Downloaded228    
    Comments [Add]    

Recommend this journal


[TAG2]
[TAG3]
[TAG4]