Publications by authors named "Luis Eduardo Morato Reboucas de Carvalho"
Hereditary hyperferritinemia-cataract syndrome is a rare autosomal dominant disease caused by a genetic mutation in the iron responsive element in the 5' untranslated region of the ferritin light chain gene. Hereditary hyperferritinemia-cataract syndrome is characterized by elevated serum ferritin levels and bilateral cataract development early in life and may be misdiagnosed as hemochromatosis. This case report describes a Brazilian family with a clinical diagnosis of hereditary hyperferritinemia-cataract syndrome, which was submitted to ferritin light chain gene sequencing.
View Article and Find Full Text PDFPurpose: The aim of this study was to describe a simple, accessible, and reliable method using a smartphone for evaluating oblique muscle dysfunctions.
Methods: The photograph rotation tool in the iPhone PHOTO app was used by 75 examiners to evaluate 22 photographs from only 9 patients, captured in infra- and supra-dextroversion, and infra- and supra-levoversion, as not all the patients were photographed in the 4 positions mentioned. Each patient received a score for the superior and inferior oblique muscle functions, ranging from -4 (hypofunction) to 4 (hyperfunction) or 0 (normal function), using preediting and postediting photographs.
Purpose: To describe a new method for measuring anomalous head positions by using a cell phone.
Methods: The photo rotation feature of the iPhone® PHOTOS application was used. With the patient seated on a chair, a horizontal stripe was fixed on the wall in the background and a sagittal stripe was fixed on the seat.
Purpose: To evaluate the efficiency of triamcinolone (TRI) in limiting the postoperative inflammatory response and scarring after strabismus surgery.
Methods: A prospective, two-stage, masked, controlled trial was conducted. In the first stage, the inflammatory response at the extraocular muscle reattachment site was analyzed after superior rectus recession in ten rabbits.