Background: Fabry disease (FD) is a rare X-linked, lysosomal storage disorder caused by mutations in the alpha-galactosidase gene and characterized by neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and ocular manifestations. The aim of this study is to characterize morphological, functional and autophagy-lysosome pathway alterations of the ocular surface in FD patients.
Methods: Eleven subjects with a diagnosis of FD and fifteen healthy control subjects were examined.
Obstructive sleep apnoea (OSA) and laryngopharyngeal reflux disease (LPR) are two common diseases that lower patients' quality of life. OSA is defined by cyclic events of airflow obstruction that occur during sleep, while LPR is characterized by upper airway inflammatory signs and symptoms due to the return of gastroduodenal gaseous and liquid elements. pH-metry is the gold standard in LPR diagnosis, but considering its invasiveness among other negative traits, questionnaires that catalog symptoms and signs of the disease such as Reflux Symptoms Index (RSI) and Reflux Finding Score (RFS) are preferred.
View Article and Find Full Text PDFPurpose: To report the case of persistent corneal epithelial defect in total limbal stem cell deficiency (LSCD) after severe firework-related ocular burn treated with autologous Platelet-Rich Plasma (PRP).
Case Description: A young patient, victim of fireworks trauma, presented with a large persistent epithelial defect affecting the central cornea of his left eye and progressing to stromal melting, in the context of grade VI ocular surface burn with 12 h limbal involvement. Impression cytology to the cornea confirmed a complete LSCD.
Ocular fibrosis leads to severe visual impairment and blindness worldwide, being a major area of unmet need in ophthalmology and medicine. To date, the only available treatments are antimetabolite drugs that have significant potentially blinding side effects, such as tissue damage and infection. There is thus an urgent need to identify novel targets to prevent/treat scarring and postsurgical fibrosis in the eye.
View Article and Find Full Text PDFVernal keratoconjunctivitis (VKC) is a chronic, recurrent, inflammatory disease of the cornea and conjunctiva mostly affecting boys in prepubertal age. VKC recurrence is characterized by intense symptoms of itching, redness, and photophobia associated with corneal damage, impairment of visual function, and quality of life. The pathogenesis of VKC has not yet been completely understood, and it is still controversial.
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