by Emily Chew, M.D., National Eye Institute, National Institutes of Health, from a talk presented at the VHLFA Patient/Provider Conference, May 1997, Bethesda, Maryland

Retinal angioma in the eye may be one of the earliest manifestations of VHL disease. As many as 60% of patients in some studies of large kindreds may have ocular involvement (see notes 1-7). The clinical appearance of these angiomas is a very subtle red or grayish dot no larger than a few hundred microns. As the proliferation of the vascular tumors (mostly of capillaries) progresses, secondary alterations occur to produce a distinctive clinical appearance. The blood vessels leading to and away from the tumor become characteristically dilated with marked enlargement. This tumor can lead to leakage of fluid and fatty deposits both around the tumor and in the central important area of the retina, the macula, which is responsible for the fine vision needed for reading, driving, etc. If the angiomas enlarge to an extent that the retina can be detached, hemorrhaging and scarring can occur. These can all lead to decrease in visual acuity of the affected individual. Rarely can these tumors regress spontaneously(8).

Often patients do not have symptoms as these lesions tend to progress slowly. The tumors can be detected in children and adults through the eighth decade of life on a routine exam(7,9). Symptoms such as decreased vision or a turned-in eye (crossed eye) may results in the detection of VHL in children. Decreased visual acuity can also cause adults to seek medical help and subsequent detection of the disease.

The treatment of the retinal angiomas will depend on the location and size of the lesions. Small lesions are easy to treat successfully while large lesions are notoriously difficult to treat. Photocoagulation with argon laser can eradicate small retinal angiomas in most locations (12). However, for those tumors too large or located in the very periphery of the retina, cryotherapy (freezing treatment) may be indicated. If the tumor is located on the optic nerve, the nerve that connects the eye to the brain, treatment is fraught with difficulties. Marked adverse side-effects are associated with treatment of such tumors with laser photocoagulation. Fortunately, these tumors may remain asymptomatic for long periods of time. For patients with the more severe changes such as retinal detachment, hemorrhage and scarring, the procedure called vitrectomy can be performed.(12) This involves the introduction of microinstruments under the guidance of a microscope to remove the areas of scarring and to flatten out the retina.

The importance of maintaining good visual function in patients affected with VHL depends on regular dilated eye examination (with the pupil of the eye opened with drops). For patients who are at risk of developing VHL, an annual dilated eye exam will provide important information and help maintain good vision. Good vision can be achieved and maintained in many affected individuals, especially if the lesions are detected and treated early in the course of the disease.

References

1. Melmon KL, Rosen SW. Lindau's disease: review of the literature and study of a large kindred. Am J Ophthalmol 1964; 36:595-617.2. Horton WA, Wong V, Eldridge R. Von Hippel-Lindau disease: clinical and pathological manifestations in nine families with 50 affected members. Arch Intern Med 1976, 136:769-777.3. Hardwig P, Robertson DM. Von Hippel-Lindau disease: a familial ... multi-system phakomatosis. Ophthalmology, 1984, 91: 263-270.4. Green JS, Bowmer MI, Johnson GJ. Von Hippel-Lindau disease in Newfoundland kindred. Can Med Assoc J 1986, 134: 133-138, 146.5. Ridley M, Green J, Johnson G. Retinal angiomatosis: the ocular manifestations of von Hippel-Lindau disease. Can J Ophthalmol 1986, 21:276-283.

6. Lamiell JM, Salazar FG, Hsia YE. Von Hippel-Lindau disease affected 43 members of a single kindred. Medicine 1989, 68:1-29.

7. Maher ER, Yates JRW, Harries R, et al. Clinical features and natural history of von Hippel-Lindau disease. Quart J Med 1990, 77:1151-1163.

8. Whitson JT, Welch RB, Green WR. Von Hippel-Lindau disease: case report of a patient with spontaneous regression of a retinal angioma. Retina, 1986, 6:253-259.

9. Jennings AM, Smith C, Cole DR, et al. Von Hippel-Lindau disease in a large British family: clinicopathological features and recommendations for screening and follow-up. Quart J Med 1988, 66:233-249.

10. Watzke RC, Weingeist TA, Constantine JB. Diagnosis and management of von Hippel-Lindau disease. In Peyman, GA, Apple DJ, and Sanders DR, eds: Intraocular tumors, New York, 1977, Appleton-Century-Crofts, pp. 199-217.11. Welch RB. Von Hippel-Lindau disease: The recognition and treatment of early angiomatosis retinae and the use of cryosurgery as an adjunct to therapy. Trans Am Ophthalmol Soc 1970, 68:367-424.

12. McDonald HR, Schatz H, Johnson RN, et al. Vitrectomy in eyes with peripheral retinal angioma associated with traction macular detachment. Ophthalmology 1996, 103:329-335.

As published in the VHL Family Forum 5:3, September 1997. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.