Glyxambi
Home About us Editorial board Ahead of print Current issue Search Archives Submit article Instructions Subscribe Contacts Login 
  • Users Online: 1683
  • Home
  • Print this page
  • Email this page


 
   Table of Contents      
PHOTO ESSAY
Year : 2019  |  Volume : 67  |  Issue : 5  |  Page : 688-690

Retinal capillary hemangioblastoma associated with retinochoroidal coloboma in Von Hippel-Lindau disease


Department of Ophthalmology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India

Date of Submission16-Sep-2018
Date of Acceptance07-Jan-2019
Date of Web Publication22-Apr-2019

Correspondence Address:
Dr. Shabari Pal
Department of Ophthalmology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow - 226 014, Uttar Pradesh
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_1564_18

Rights and Permissions
  Abstract 


Keywords: Retinal capillary hemangioblastoma, retinochoroidal coloboma, Von Hippel-Lindau disease


How to cite this article:
Mishra P, Pal S, Kanaujia V, Sharma K. Retinal capillary hemangioblastoma associated with retinochoroidal coloboma in Von Hippel-Lindau disease. Indian J Ophthalmol 2019;67:688-90

How to cite this URL:
Mishra P, Pal S, Kanaujia V, Sharma K. Retinal capillary hemangioblastoma associated with retinochoroidal coloboma in Von Hippel-Lindau disease. Indian J Ophthalmol [serial online] 2019 [cited 2019 May 22];67:688-90. Available from: http://www.ijo.in/text.asp?2019/67/5/688/256670




  Case Report Top


A 30-year-old lady of diagnosed von Hippel-Lindau (VHL) disease was referred to us for ophthalmological evaluation. Her visual acuity was 6/6 in both eyes and anterior segment examination was normal. On fundus examination, bilateral multiple retinal capillary hemangioblastomas (RCH) were seen within and around the inferior retinochoroidal colobomas [Figure 1],[Figure 2],[Figure 3],[Figure 4]. Multiple feeder arteries and tortuous, beaded draining veins were seen. Fundus fluorescein angiography showed leakage [Figure 5]. One sitting of barrage laser was done around the coloboma. Patient did not consent to further treatment as there was no ocular symptom. At 1 year of follow-up although slight increase in size of some tumors were noted, visual acuity remained stable and no complications were seen.
Figure 1: Color fundus photograph of right eye showing multiple capillary hemangioblastomas aggregated over inferior retinochoroidal coloboma

Click here to view
Figure 2: Color fundus montage of right eye showing one capillary hemangioblastomas just above inferior retinochoroidal coloboma

Click here to view
Figure 3: Color fundus photograph of left eye showing multiple capillary hemangioblastomas aggregated over inferior retinochoroidal coloboma

Click here to view
Figure 4: Color fundus montage of left eye of the same patient showing inferior coloboma along with multiple capillary hemangioblastomas

Click here to view
Figure 5: Fundus fluorescein angiography picture of left eye showing leakage from all capillary hemangioblastomas

Click here to view



  Discussion Top


VHL disease is an autosomal dominant disorder characterized by tumors and cysts in multiple organs due to mutation in VHL tumor suppressor gene on chromosome 3. RCH is one of the most frequent presenting feature of the disease occurring in 49% to 85% cases.[1] Retinochoroidal coloboma is a rare eye malformation, can be sporadic or inherited, frequently with mutation in PAX2 gene, and is known to be part of various genetic syndromes. Association of retinochoroidal coloboma with VHL disease or RCH with coloboma in VHL disease has never been reported.

Capillary hemangioblastoma can cause vision loss from exudation, haemorrhage, and retinal detachment. The most common complication associated with retinochoroidal colobomas is retinal detachment, occurring in 8.1–43% of cases.[2],[3] Presence of both entities, as in our case, can increase the risk by several folds.

Lasave and Deromedis reported bilateral chorioretinal coloboma and a solitary, unilateral RCH and suggested a possible correlation between ischemic areas of the coloboma and production of vascular endothelial growth factor leading to abnormal vessel growth in the form of retinal hemangioblastomas.[4] In our case, bilateral aggregation of the retinal hemangioblastomas over and around the coloboma adds to the above hypothesis that some factors like ultrastructural abnormality of the colobomatous area or ischemia definitely play a role in this association rather than being a mere coincidence. Further genetic studies will help to establish the possible syndromic association between these two entities.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Singh AD, Nouri M, Shields CL, Shields JA, Perez N. Treatment of retinal capillary hemangioma. Ophthalmology 2002;109:1799-806.  Back to cited text no. 1
    
2.
Daufenbach DR, Ruttum MS, Pulido JS, Keech RV. Chorioretinal colobomas in a pediatric population. Ophthalmology 1998;105:1455-8.  Back to cited text no. 2
    
3.
Gopal L, Badrinath SS, Sharma T. Surgical management of retinal detachments related to coloboma of the choroid. Ophthalmology 1998;105:804-9.  Back to cited text no. 3
    
4.
Lasave AF, Deromedis P. Solitary retinal capillary hemangioma in a patient with bilateral chorioretinal coloboma. Retin Cases Brief Rep 2017. doi:10.1097/ICB.0000000000000586. [Epub ahead of print].  Back to cited text no. 4
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

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
Case Report
Discussion
References
Article Figures

 Article Access Statistics
    Viewed216    
    Printed1    
    Emailed0    
    PDF Downloaded43    
    Comments [Add]    

Recommend this journal