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   Table of Contents      
CASE REPORT
Year : 1988  |  Volume : 36  |  Issue : 1  |  Page : 46-47

Von Hippel Lindau disease


Gyan Ghakshu Research Foundation & Eye Centre, 19-A, Lal Bahadur Shastri Marg, Allahabad-211 001, India

Correspondence Address:
M K Khare
Gyan Ghakshu Research Foundation & Eye Centre, 19-A, Lal Bahadur Shastri Marg, Allahabad-211 001
India
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Source of Support: None, Conflict of Interest: None


PMID: 3253205

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  Abstract 

Von Hippel Lindan disease is a rare congenital vascular malformation afflicting the retinal and central nervous system blood vessels. A boy aged 12 years suffering from this angiomatosis with bilateral involvement was examined. Fundus both eyes revealed marked vascular malformation in the form of extreme venous dilatation and tortuosity along with angioma formation. There was no associated central nervous system involvement in this case.


How to cite this article:
Khare M K, Varma R. Von Hippel Lindau disease. Indian J Ophthalmol 1988;36:46-7

How to cite this URL:
Khare M K, Varma R. Von Hippel Lindau disease. Indian J Ophthalmol [serial online] 1988 [cited 2020 Aug 9];36:46-7. Available from: http://www.ijo.in/text.asp?1988/36/1/46/26159


  Introduction Top


The angiomatosis of von Hippel Lindau (VHL) is a developmental aberration of entire vascular units wherein enlarged afferent and efferent vessels course, to and from a localised angiomatous tumour which represents the intervening capillary bed [1].

These changes affect the retina, CNS and Viscera with progressive and eventually destructive changes. Secon­dary complications in the retina are the rule.

This is potentially a blinding condition if not detected and treated at its earliest stage. The progression of the disease can be classified into five stages [Table 1]

Systemic complications of which cerebellar hemangio­blastoma and renal cell carcinoma being the commo­nest, may be fatal in the later stages. [2],[3]

This is transmitted by an autosomal dominant gene with incomplete penetrance and varying in its expres­sion Ocular, CNS & visceral manifestations appear in different members of the family in varying degrees [4]


  Case report Top


A boy aged 12 years came to us with a history of gradual diminution of vision in both eyes for the last 2-3 years

On examination we found his maximum corrected visual acuity in both eyes less than 6/60. Intra ocular tension was 17.3 mmHg in both eyes.

Slit lamp examination did not show any significant finding in the anterior segment Fundus examination with direct and indirect opthalmoscope revealed clean media in both eyes.

There was fullness, tortuosity and extreme dilatation of veins (see [Figure - 1][Figure - 2]) with neovascularization and multiple haemorrhages in central fundus.

Angioma with afferent and efferent connections was present in the peripheral retina [Figure - 3][Figure - 4]

Systemic Examination

Systemic examination did not reveal any positive find­ing.


  Discussion Top


Von Hippel Lindaus Disease is a rare condition. This is characterized by its congenital origin, dominant heredi­tary pattern and formation of multiple cyst like tumours all over the body particularly in the retina and the CNS. Clinical variability remains the rule in Von Hippel Lindau s disease It is distinctly unusual for an indivi­dual to manifest the entire syndrome.' Similarly, affected members of the same family are afflicted to varying degrees.

Of more than 25 distinct lesions that have been identi­fied, non-ophthalmic involvement commonly produce significant morbidity [6],[7],[8] cerebeller 69% medullary 11 %, and spinal haemangioblastoma; renal cell carci­noma 22%, and pheochromocytoma 3% Harding P& Rober­

Earlier studies have demonstrated a close association between retinal angioma and cerebellar tumours [9],[11]

This case is being presented because unlike in previous cases this case had only ocular involvement without

any CNS involvement

Summary

1. Von Hippel Lindaus Disease is a hereditary condition with dominant pattern. It is, therefore, important to determine if the patient represents an isolated spora­dic case or is a member of affected family.

2. CNS exam is mandatory.

3. Early detection and mangement of ocular and systemic lesions with its complications will save the sight and life of a person as the disease is fatal in the late stage.

 
  References Top

1.
Duke-Elder, system of ophthalmology, London; Kimpton 10: 738-739, 1967.  Back to cited text no. 1
    
2.
Kalplan C, Sayre G P, Greene LF. Bilateral nephrogenic carcino­mas in Lindau-von Hippel disease. J Uro, 86: 36-42, 1961.  Back to cited text no. 2
    
3.
Fill W L Lamiell J M, Polk NO. The radiographic manifestations of von Hippel-Lindau disease. Radiology, 133 :298-95, 1979.  Back to cited text no. 3
    
4.
Melmon L & Rawson S W 1964. Duke- Elder, System of Ophthal­mology, London; Kimpton, 10: 741, 1967.  Back to cited text no. 4
    
5.
Hubschmann OR Vijayanathan T, Countee R W. von Hippel­Lindau disease with multiple manifestations : diagnosis and management Neurosurgery 8 : 92-5, 1981.  Back to cited text no. 5
    
6.
Melmon K L, Rosen S W. Lindau s disease; Review of the literature and study of a kindered. Am J Med. 36: 595-617, 1964.  Back to cited text no. 6
    
7.
Grossman M. Melmon K L, von Hippel-Lindau disease. In: Vinken P J, Bruyn G W, eds. Handbook of clinical Neurology. Vol. 14: The Phakomatosis Amsterdam : North-Holland 241-59,1972.  Back to cited text no. 7
    
8.
Horton W A. Wong V, Eldridge R von Hippel-Lindau disease: Clinical and pathological manifestations in nine families with 50 affected members. Arch Intern Med 136-:769-77, 1976.  Back to cited text no. 8
    
9.
Hardwig, P., and Robertson D M: von Hippel-Lindau Disease. A familial often lethal, multi-system phakomatosis. Ophthalmology 91 : 263, 1984.  Back to cited text no. 9
    
10.
Welch R B. von Hippel-Lindau disease: The recognition and treatment of early angiomatosis retina and the use of cryosurgery as an adjunct to therapy. Trans Am Ophthalmol Soc, 68: 367-424, 1970.  Back to cited text no. 10
    
11.
Horton W A, Wong V, Eldinge R Von Hippel-Lindau disease : Clinical pathological manifestations in nine families with 50 affected members Arch Interm Med 136-769-77, 1976.  Back to cited text no. 11
    


    Figures

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



 

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