Singh, J.; (2011) Clinical studies relating to retinal vascular disease in multisystem disorders. Doctoral thesis , UCL (University College London).

Abstract

Retinal vascular disease and breakdown of the inner blood retinal barrier are an important cause of visual morbidity in a number of multisystem disorders. The pathological processes underlying these retinal changes include immune, metabolic and genetically mediated mechanisms, and this thesis examines an example of each of these aetiologies. Behçet’s disease is a multisystem inflammatory disorder. Intraocular inflammation occurs in the majority of patients. The associated retinal vasculitis can be occlusive and carries a high risk of severe and permanent visual loss. A longitudinal study of 107 patients with ocular Behçet’s disease presenting over the last decade was undertaken. Long term visual outcomes were found to be improved when compared to earlier published series which may in part reflect a treatment benefit of newer biological agents. Of the metabolic disorders, diabetic retinopathy is the most common retinal vascular disease encountered in ophthalmic practice. Reports in the literature suggest that in patients with coexisting diabetes mellitus and uveitis there may be disease interactions that could potentially augment their respective clinical manifestations and modify disease progression. A retrospective case note review of uveitic eyes that developed diabetes mellitus found stable visual acuity up to 4 years after the onset of coexisting disease and no change in the treatment required to control the intraocular inflammation. No increase in the complications of uveitis was demonstrated. In a comparable study there was no evidence found to suggest that the onset of uveitis in patients with diabetes mellitus resulted in an increase in the development or progression of diabetic retinopathy. von Hippel-Lindau disease is an autosomal dominant inherited cancer syndrome. Retinal capillary haemangioblastoma is the characteristic ocular finding and can cause visual loss as a consequence of leakage through the abnormal vascular endothelium of the tumour. Patients with and without cystic visceral lesions were compared and found not to differ in relation to their respective ocular phenotype. A phenotype comprising pancreatic cysts and central nervous system haemangioblastoma linked to VHL gene deletions was suggested.

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