Search

Background: Oculocutaneous Albinism (OCA) is an autosomal recessive inherited condition that affects the pigmentation of eyes, hair and skin. The OCA phenotype may be caused by mutations in the tyrosinase gene (TYR), which expresses the tyrosinase enzyme and has an important role in the synthesis of melanin pigment. The aim of this study was to identify the genetic mutation responsible for the albinism in a captive capuchin monkey, and to describe the TYR gene of normal phenotype individuals. In addition, we identified the subject's species. Results: A homozygous nonsense mutation was identified in exon 1 of the TYR gene, with the substitution of a cytosine for a thymine nucleotide (C64T) at codon 22, leading to a premature stop codon (R22X) in the albino robust capuchin monkey. The albino and five non-albino robust capuchin monkeys were identified as Sapajus apella, based on phylogenetic analyses, pelage pattern and geographic provenance. One individual was identified as S. macrocephalus. Conclusion: We conclude that the point mutation C64T in the TYR gene is responsible for the OCA1 albino phenotype in the capuchin monkey, classified as Sapajus apella. [ABSTRACT FROM AUTHOR]

Purpose: To identify the donors' profile and evaluate the factors influencing the quality of the donated corneas in Santa Casa Eye Bank, from July, 2000 to January, 2004., Methods: Data from the charts of 151 patients submitted to penetrating keratoplasty, registered in Santa Casa Eye Bank, from July, 2000 to January 2004 resulted in 180 surgeries., Results: Mean age of the donors was 57.57 +/- 19.74 years old (varied from 9 months to 97 years old) and 54.44% were male. The cause of death was predominantly cardiovascular (50.55%), followed by consumptive diseases (17.77%), trauma (14.44%) and others (17.22%). Considering the quality of the cornea, there was no statistically significant difference among the three main groups of cause of death (p=0.527) and time from death to corneal preservation (p=0.053). There was a statistically significant difference between quality of donated corneas above 61 years old and other ages (p=0.037)., Conclusion: The most frequent cause of death was cardiovascular, followed by pulmonary diseases and trauma. We could also note that factors inherent to donor like age (>60 years old) predisposed to a worse anatomical quality of the cornea and factors like cause of death and time between death and preservation did not influence the quality of the cornea.

Purpose: To investigate the visual sensations experienced by patients during vitrectomy under retrobulbar anesthesia., Methods: 30 men and 45 women with a mean age of 65.3 +/- 10.6 years underwent vitrectomy under retrobulbar anesthesia for macular disease. 28 eyes had an idiopathic epiretinal membrane, 13 had an idiopathic macular hole, 32 had macular edema (17 diabetic retinopathy and 15 retinal vein occlusion), and 2 had submacular hemorrhage. 49 patients with nonmacular disease underwent similar vitrectomy procedures and were used for comparison. An interview was conducted with the patient about his/her visual sensations during and within 3 h of the vitrectomy., Results: 70 (93.3%) of the patients reported seeing lights, 53 (70.7%) reported seeing colors, and 48 (64.0%) reported seeing movements or moving objects. Of the patients who reported seeing movements or moving objects, 44 (58.7%) reported seeing surgical instruments, and 5 (6.7%) saw the surgeon's fingers or hands. Patients with macular diseases tended to report more visual sensations than patients with nonmacular diseases. The patients' description and drawings appeared to arise mainly from the shadows cast by the intravitreal objects, and some patients perceived highly accurate details including the movements and color of the objects., Conclusions: Visual sensations are experienced by approximately 90% of the patients, and there may be a common mechanism by which patients perceive the intravitreal objects that are not focused on by the retina through the eye's optical system., ((c) 2009 S. Karger AG, Basel.)

Purpose: Retinal photocoagulation under poor visualization condition is often required. Transscleral infrared laser can be used as an alternative to regular transpupillary treatment. Based upon retinographic measurements, we proposed to estimate the reproducibility as well as ocular wall permeability rate for this treatment. Our primary goal was to evaluate whether this technique can deliver adequate photocoagulation at predetermined parameters without direct retinal visualization., Methods: In New Zealand pigmented rabbits, optimal transscleral infrared diode laser settings were administered to the right eye. With the same parameters, transpupillary photocoagulation was repeated in the left eye. Retinographic and clinical examinations were performed immediately and two months later., Results: Ocular wall permeability rate varied between 58.95 and 63.87%. Average permeability using a power of 300 mW (63.14%) was found to be higher than that encountered before its enhancement up to 500 mW (59.11%), (P<0.05)., Conclusions: Setting parameters showed dose-response effect. No retinal hole or retinal detachment was noticed in any rabbit. Transscleral infrared photocoagulation appeared to be a reproducible and secure method in the experimental model.

Purpose: To identify the indications for penetrating keratoplasty at the Department of Ophthalmology of the Santa Casa of São Paulo from January 1996 to December 2005 and to compare them with those from January 1991 to December 1995., Methods: Charts of patients who had undergone penetrating keratoplasty from January 1996 to December 2006 were retrospectively reviewed., Results: There were 587 keratoplasties done in this period. The average age of patients was 49.6 +/- 21.1 years (range 1 to 91 years). The most common indications were infectious keratitis (17.9%), trauma (16%), pseudophakic bullous keratopathy (14.7%), keratoconus (13.1%), regrafts (12.8%) and herpetic keratitis (6.6%)., Conclusion: The leading indications for penetrating keratoplasty were infectious keratitis, trauma, bullous keratopathy, herpetic keratitis. There was a decreasing trend in penetrating keratoplasty for keratoconus and regraft during the last 10 years.