The appearance of newly identified intraocular lesions in Gaucher disease type 3 despite long-term glucocerebrosidase replacement therapy.

Background Gaucher disease (GD) is an autosomal recessive lipid storage disorder caused by the deficient activity of the lysosomal enzyme glucocerebrosidase. The presence of central nervous system disease is a hallmark of the neuronopathic forms of GD (types 2 and 3). Intraocular lesions (e.

[The level of cotinine - marker of tobacco smoking, in patients with hyperthyroidism].

Introduction: Orbitopathy associated with Graves' disease TAO (thyroid associated orbitopathy) is likewise connected with environmental factors including tobacco smoking. Tobacco smoking increases the risk of ophthalmologic pathology and leads to the orbital tissue damage due to the hypoxia. The aim of the study was to correlate the concentration of urinecotinine (marker of tobacco smoking) in Graves' disease patients with TAO with points received on the Fagerström questionnaire.