Analysis of long-term (34 years) observation of a patient with ophthalmological manifestations of Grenblad–Strandberg syndrome

Abstract

The prognosis for the life of patients with genetic pathology depends on the interaction between specialists from different areas of medicine for timely detection and selection of treatment tactics. Pseudoxanthoma elasticum (Grenblad–Strandberg syndrome) is a hereditary disease in which elastic fibers of the skin, the cardiovascular system and the retina are affected. Clinical manifestations: skin changes in Grenblad–Strandberg syndrome are represented by flat xanthomatous nodules of yellowish color. Cardiovascular manifestations of pseudoxanthoma elasticum are angina pectoris, decreased pulse amplitude, cardiomyopathy, sudden heart failure, often leading to death. Eye disorders occur in stages. For the early stages, the appearance of angioid streaks is typical, which appear as a result of calcification of elastic fibers of capillaries. The progression of the process leads to neovascularization and hemorrhages from the choriocapillaries, the formation of a subretinal neovascular membrane of foveolar localization, causing a decrease in vision. The late stages are characterized by scarring. Therapy depends on the stage and rate of progression of the disease and is effective at stages I–II (according to Vivaldi). Own clinical observation: Male patient, 71 years old, referred for cataract surgery with the diagnosis “Both eyes: Senile cataract, open-angle glaucoma, (stage I a, under beta-blocker therapy), Grenblad–Strandberg syndrome”. Attention is drawn to the long observation period — 34 years, with documented data from the first examinations in 1989 and all subsequent ones. Of particular interest is the availability of preserved patient documentation for all years of follow-up, including diagnosis and treatment.