Kearns-Sayre syndrome (KSS) is a rare mitochondrial disease that affects young adults, due to a deletion of mitochondrial DNA and characterized by the triad: age of onset lower than 20 years, chronic progressive external ophthalmoplegia, and an atypical pigmentary retinopathy. It is also characterized by other endocrine, neurological, and especially cardiac impairment with a very high risk of cardiac complications during surgical procedures under all types of anesthesia. We report a case of KSS revealed by severe bilateral ptosis and confirmed by a muscle biopsy with "ragged red fibers.
View Article and Find Full Text PDFPhotic ocular injuries are secondary traumatic injuries resulting from the toxic effects of the interaction between light and the eye, particularly the retina. We report the cases of two patients who experienced photic macular injury from their early childhood due to observing a solar eclipse without protection. The retinal lesions are mainly macular; these can be serious and irreversible.
View Article and Find Full Text PDFBACKGROUND Lamellar ichthyosis is a rare type of hereditary ichthyosis disease that is responsible for generalized dry skin and severe scaling. Congenital ectropion and eclabium are often associated with this condition. The ectropion can cause many ophthalmologic complications, mostly due to corneal exposure caused by the lack of eyelid cleft closure.
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