|Year : 1988 | Volume
| Issue : 1 | Page : 46-47
Von Hippel Lindau disease
MK Khare, Rajan Varma
Gyan Ghakshu Research Foundation & Eye Centre, 19-A, Lal Bahadur Shastri Marg, Allahabad-211 001, India
M K Khare
Gyan Ghakshu Research Foundation & Eye Centre, 19-A, Lal Bahadur Shastri Marg, Allahabad-211 001
Source of Support: None, Conflict of Interest: None
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
| Introduction|| |
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 .
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. ,
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 
| Case report|| |
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 did not reveal any positive finding.
| Discussion|| |
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 ,, 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 ,
This case is being presented because unlike in previous cases this case had only ocular involvement without
any CNS involvement
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|| |
Duke-Elder, system of ophthalmology, London; Kimpton 10: 738-739, 1967.
Kalplan C, Sayre G P, Greene LF. Bilateral nephrogenic carcinomas in Lindau-von Hippel disease. J Uro, 86: 36-42, 1961.
Fill W L Lamiell J M, Polk NO. The radiographic manifestations of von Hippel-Lindau disease. Radiology, 133 :298-95, 1979.
Melmon L & Rawson S W 1964. Duke- Elder, System of Ophthalmology, London; Kimpton, 10: 741, 1967.
Hubschmann OR Vijayanathan T, Countee R W. von HippelLindau disease with multiple manifestations : diagnosis and management Neurosurgery 8 : 92-5, 1981.
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.
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.
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.
Hardwig, P., and Robertson D M: von Hippel-Lindau Disease. A familial often lethal, multi-system phakomatosis. Ophthalmology 91 : 263, 1984.
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.
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.
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]