First Author: D.Trivedi UK
Co Author(s): A. Kidess S. Carless E. Maher A. Denniston M. Tsaloumas 0 0 0 0 0 0 0 0 0
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To summarise the clinical features in a cohort of patients with Von Hippel Lindau (VHL) referred for ocular screening. We collected information on systemic and ocular features as well as gene mutations to investigate a correlation between these findings. We aim to raise awareness of ocular features associated with VHL and the importance of early recognition in order to initiate prompt treatment.
All patients were assessed by our VHL supraregional service in Birmingham, UK.
This was a retrospective study with data gathered by case note review. Inclusion criteria comprised VHL gene positive patients and those with clinical features or a family history suggestive of VHL. Ocular data collected included age of onset of ocular features, location, number and extent of lesions, effect on visual acuity and treatments received.
Of 167 patients seen by the service, 149 patients met the inclusion criteria, with 44.4% being ‘gene-positive’. Of the 149 patients, 78 were male and 71 female, with a median (range) age of 34 (1-73) years. The commonest systemic manifestations were CNS hemangioblastoma 58.5%, renal cyst 22.1%, pancreatic cyst 16.2%, renal cell carcinoma 12.8% and pheochromocytoma 10.1%. Retinal angioma was present in 28.1% of which 53.7% had bilateral disease. 12.5% had disc angioma of which 33.3% were bilateral. Retinal or disc angiomas were present in 50.8% of the positive group vs 42.9% of patients in the clinically confirmed but gene-negative group. 55 eyes with retinal angiomas were treated with laser photocoagulation to the lesion. At the time of presentation, 7 patients had vision <6/60 in one eye, and 2 had vision <6/60 in both eyes; in 8 of the 9, poor vision was due to retinal angiomas. During the period of follow-up (median 7 years), 3 further patients lost vision due to retinal angioma/detachment and 9 patients died during the follow up period due to systemic complications related to VHL.
Our data on systemic manifestations of VHL compare favourably to previous studies. Analysis of data suggests that patients who are seen early by an Ophthalmologist, before vision is affected, are likely to maintain this vision. All patients with retinal angiomas in our study had laser photocoagulation, and this intervention is paramount in order to preserve sight. The rate of ocular involvement in VHL and its potential consequences makes ophthalmic screening an important part of VHL diagnosis. Any patient who is VHL gene positive must be screened, and in addition to this, patients with any of the features of VHL should also be screened. This allows for early recognition and treatment of retinal lesions which may prevent visual loss. The VHL gene positive rate reflects only those mutations that have previously been reported and there maybe other mutations not yet identified. There is much scope for genetic research in this area which may help to identify an association between a specific mutation and ocular involvement.