6 research outputs found

    Culture Negative Confoscan Positive Acanthamoeba Keratitis: A relentless course

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    Acanthamoeba keratitis is a protozoal infection of the eye, mainly due to the use of non-sterile solutions, like saline for disinfecting contact lenses. We report a case where delay in the diagnosis of acanthamoeba keratitis due to inadequate laboratory investigations and clinical management led to an excruciatingly painful course of the disease. The importance of non-invasive imaging techniques of confocal microscopy in the diagnosis of acanthamoeba keratitis, in the absence of positive culture reports, is highlighted in this case

    New Ocular Associations in Sanjad-Sakati Syndrome; Case report from Oman

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    Sanjad-Sakati syndrome (SSS; Online Mendelian Inheritance in Man [OMIM] #241410), also known as hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, is an autosomal recessive disorder in which prenatal-onset extreme growth retardation, congenital hypoparathyroidism and craniofacial dysmorphism result from mutations in the tubulin-specific chaperone E (TBCE) gene on chromosome 1q42-43. We report unique ophthalmic findings in a two-year-old child with molecularly confirmed SSS, who was admitted to Sultan Qaboos University Hospital in Oman at 11 weeks old with bilateral congenital corneal clouding. The ophthalmic findings in this patient were linked to faulty microtubule assembly in the brain, abnormal intracellular membrane transport and the resulting metabolic derangement seen in patients with SSS
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