VOLUME 72 - ISSUE 4

PURPOSE: 1) Diagnose, through optical coherence tomography (OCT) exam, the occurrence of diabetic macular edema in patients with diabetic retinopathy and visual acuity of 20/40 or better, by measuring the foveal center point thickness, during one year. 2) Evaluate the edema natural history, during this period, associating the center point thickness with hemoglobin A1c and changes in visual acuity. 3) Correlate the obtained results with the control group. METHODS: A prospective study was done, of a sample of 30 patients with diabetic macular edema and visual acuity of 20/40 or better. Measurements of the best corrected visual acuity, hemoglobin A1c level, biomicroscopy with 78-diopter lens, fluorescein angiogram and optical coherence tomography were made. The retinal thickness was selected as the main variable. Besides descriptive statistics, additional tests were applied to analyze the results and determine the correlation between these variables, such as t-Student, Chi-Square, Tukey and ANOVA. The relation of optical coherence tomography with visual acuity and hemoglobin A1c was studied through linear regression. RESULTS: It was found that there is no significant difference between patients and normal individuals, for the variables age and gender. The values of center point thickness found for men were greater than those for women, showing the influence of gender on that thickness. As many as 83.33% of the diabetic patients with clinically significant macular edema presented moderate non-proliferative diabetic retinopathy (NPDR), 10% presented mild NPDR and 6.66% severe non-proliferative diabetic retinopathy. Patients under combined treatment of insulin and oral hypoglycemiant presented influence on the results of center point thickness (through OCT) and visual acuity. The mean duration of diabetes was 9.63 years. Values of center point thickness were always found greater for patients than those for normal eyes. Levels of hemoglobin A1c did not have influence on the center point thickness data, whereas values of visual acuity were significantly correlated with it. CONCLUSION: This study presents the optical coherence tomography applicability in the detection and semiologic evaluation of diabetic macular edema in patients with visual acuity 20/40 or greater, during one year, showing the retinal thickening in the early stages of diabetic retinopathy. Further, it evidenciated the correlation between the increase in foveal thickness and the reduction in visual acuity. Levels of hemoglobin A1c did not influence the center point thickness data. An early detection of clinically significant macular edema leads us to a redefinition of the real meaning of incipient retinopathy and can prevent further significant reduction of vision.

Keywords: Diabetic retinopathy; Macular edema; Tomography, optical coherence; Light coagulation; Fovea centralis; Visual acuity

PURPOSE: To assess the intraocular pressure (IOP) and ocular rigidity (E) at 1, 3, 6 and 24 postoperative months in eyes that underwent LASIK. METHODS: The IOP measured by Goldmann applanation tonometer (GAT) and by the 5.5 and 10 gm. weights of a standardized Schioetz tonometer (ST) and the E measured by differential tonometry (the 5.5 and 10 gm. of ST) were assessed before and after LASIK (at 1, 3, 6 and 24 month) in 23 eyes. The volume of the corneal indentation (Vc) and IOP with ST resting on the eye (tonometric pressure - Pt) were also evaluated. RESULTS: The average IOP (GAT) at 6 and 24 months after LASIK was lower than at 1 and 3 months and before LASIK. A statistically significant difference of E was found at 1, 3, 6 and 24 months. The reduction of the central corneal thickness (CCT) by LASIK was the cause of increasing values of Vc and decreased values of Pt. In turn, the changes in Vc and Pt were responsible for the lower IOP measurements by GAT and E changes. CONCLUSIONS: LASIK reduces IOP readings by GAT but not the ones by ST (differential tonometry). LASIK also diminishes E. IOP (GAT) values are lower at 6 and 24 months. IOP evaluation by ST is more accurate than that by GAT. At 6 months, Vc, Pt and E parameters are stabilized (no changes relatively to 24 months measurements.

Keywords: Intraocular pressure; Keratomileusis, laser in situ

PURPOSE: The present study aimed to evaluate an injectable extended-release formulation of prednisolone acetate (PA) for orbital administration. METHODS: Microspheres (MEs) of poly-e-caprolactone (PCL) containing PA were developed by the method of solvent evaporation. The MEs obtained were characterized by scanning electron microscopy (SEM), differential scanning calorimetry (DSC), encapsulation efficiency and in vitro release profile. The in vivo release profile was evaluated in rabbits after periocular injection of an aqueous suspension of MEs. The local biocompatibility of the system was verified by histopathologic analysis of the deployment region. RESULTS: After MEs preparation, morphological analysis by SEM showed the feasibility of the employed method. The content of PA encapsulated was 43 ± 7% and can be considered as satisfactory. The system characterization by DSC technique, in addition to confirm the system stability, did not indicate the existence of interaction between the drug and the polymer. The in vitro release study showed the prolonged-release features of the developed system. Preliminary in vivo study showed the absence of local toxicity and confirmed the prolonged release profile of PA from MEs, suggesting the viability of the developed system for the treatment of orbital inflammatory diseases. CONCLUSION: The results obtained in this work are relevant and accredit the system developed as a possible alternative to the treatment of inflammatory orbitopathy.

Keywords: Drug delivery systems; Drug implants; Absorbable implants; Orbital diseases; Delayed-action preparations; Polymers; Drug carriers; Prednisolone

PURPOSES: To determine the incidence of retinopathy of prematurity and assess the main risk factors involved in its development. METHODS: Retrospective cohort study carried out from January 2004 to December 2006, at University Hospital Onofre Lopes, Natal (RN) - Brazil. The sample was composed of 663 newborns, with less than or equal to 36 weeks of gestational age and/or birth weight less than or equal to 1,500 g, submitted to the protocol of retinopathy of prematurity in the ophthalmology department of the hospital. The variables were: gender, birth weight, gestational age, duration of oxygen therapy, mechanical ventilation, sepsis and blood transfusion. Data were analyzed through the chi-squared test, Fisher's exact test and logistic regression model. RESULTS: Of the 663 cases, retinopathy of prematurity occurred in 414 (62.4%). Of the total sample, 338 (51.0%) were male and 282 (42.5%) female. Mean and standard deviation of weight, gestational age and duration of oxygen therapy were, respectively, 1,334.9 ± 345.6 g, 31.9 ± 2.3 weeks and 10.0 ± 14.0 days. The incidence of retinopathy in premature newborns in the period was 62.4%, 58.0% of cases in 2004, 67.2% in 2005 and 63.0% in 2006. The multiple logistic regression analysis showed that the weight less than 1,000 g (p<0.001; adjOR=17.18, CI= 6.52-45.29) and between 1,000 g and 1,500 g (p=0.002; adjOR -4.20 CI= 1.68-10.48), the time of oxygen lounger than 20 days (p=0.022; adjOR=3.40, CI= 1.19-9.69) and blood transfusion (p=0.022; adjOR -2.06, CI= 1.11-3.83) are independent factors for the disease. CONCLUSIONS: The study showed a high incidence of the disease in the service. A low birth weight, a prolonged oxygen therapy and blood transfusion are factors associated with the development of retinopathy of prematurity. Gestational age is not a reliable parameter for screening of newborns in the service.

Keywords: Retinopathy of prematurity; Risk factors; Newborn infant, premature; Newborn infant, low birth weight

PURPOSE: Involvement of the cornea endothelium during uveitis has not been extensively studied even though it might participate in or constitute a target of ocular inflammation. Formation of keratic precipitates (KP) is a characteristic finding in several forms of uveitis. The aim of this prospective study was to examine the vicinity of keratic precipitates in infectious and noninfectious uveitis by specular microscopy. METHODS: Patients with infectious and noninfectious uveitis in any activity level and presence of keratic precipitates were enrolled. The mean age was 40.5 years (± 14.2 years). A Topcon SP-2000P noncontact specular microscope was used to capture endothelial images in the vicinity of keratic precipitates. Automated morphometric analysis was done for cell size, cell density and cells coefficient of variation. Statistical comparisons were made between the infectious and noninfectious groups. RESULTS: From the 25 patients enrolled in this study, 16 (44%) eyes presented infectious uveitis, 19 (53%) noninfectious uveitis and 1 (3%) eye was excluded due to the impossibility to obtain a specular image. The mean cell density estimated was 2,628 ± 204 cells/mm² in infectious group and 2,622 ± 357 cells/mm² in noninfectious group. The mean cellular area in infectious and noninfectious group was respectively 385 ± 31 µm² and 390 ± 60 µm². The coefficient of variation (%) of the cellular area in the vicinity of keratic precipitates was 26.36 ±3.44 in infectious and 27.69 ± 4.61 in noninfectious group. The differences between the groups were not statistically significant (P<0.005 / Mann-Whitney test) for the three morphologic variables. CONCLUSION: The clinical applicability of specular microscopy in patients with uveitis can be an useful tool to evaluate the corneal endothelium in the presence of keratic precipitates, however the handicap of the specular image formation might not be discarded in some cases. The differences found were not clinically meaningful between the infectious and noninfectious groups, however the uveitis in various degrees of intraocular inflammation and the relatively small number of patients in each clinical category of this study, indicates that further studies can be required to evaluate better the morphology of the endothelium.

Keywords: Corneal topography; Endothelium, corneal; Uveitis; Microscopy; Precipitation

PURPOSE: To evaluate the corneal cross-linking (CXL) effect on symptomatic bullous keratopathy, and its impact on the visual acuity, corneal thickness and pain symptomatology. METHODS: Twelve patients with symptomatic bullous keratophaty were included. A clinical examination with a specific questionnaire (pain scale - visual numeric analog scale), visual acuity, and corneal thickness measures was performed before corneal cross-linking and 7, 30 and 60 days after the procedure. In all patients, the treatment with the UVA-crosslinking was done after corneal abrasion on the slit-lamp and instillation of 0.1% riboflavin in saline for every five minutes, lasting 30 minutes. Subsequently, the patient underwent the UVA light exposure, using riboflavin and topical anesthesia, every five minutes lasting 30 minutes. The patient received 0.3% ofloxacine drops, and artificial tears until complete reepithelization. The Friedman test was used to compare the means of frequencies of visual acuity, pain symptoms and corneal thickness. A "p" value <0.05 was considered for rejecting the null hypothesis. RESULTS: Twelve eyes from 12 patients with recurrent epithelium erosions were treated. The mean follow-up was two months. Significant pain reduction was observed (p<0.001). Corneal thickness and visual acuity measurements presented with no significant difference. CONCLUSION: The potential use of cross-linking in the treatment of bullous keratopathy pain was proved to be likely. A longer follow-up to confirm whether these results can be reproduced in the long term is necessary.

Keywords: Cornea; Corneal topography; Cross-linking reagents; Corneal transplantation; Pain; Endothelium, corneal; Photosensitizing agents; Riboflavin; Ultraviolet rays; Visual acuity

PURPOSE: To assess vision-related quality of life in children with bilateral congenital cataracts, using the recently developed Children's Visual Function Questionnaire (CVFQ). METHODS: CVFQ has two presentations, one for children under 3 years of age and the other for older children, and is divided in six subscales - general health; general vision; competence; personality; family impact and treatment. From those, a composite score can also be calculated. The CVFQ was applied in the hospital setting to parents or other caretakers by personal interview. The subscale scores were compared for control group (n=32 - normal vision) versus congenital cataract group (n=16 no visual impairment, n=10 - mild visual impairment and n=11 - severe visual impairment). For analysis, t-tests and analysis of variance (ANOVA) were performed. RESULTS: All quality of life subscales presented low scores for children with bilateral congenital cataracts. Congenital bilateral cataract scores were lower than those of the control group for all subscales. Competence subscale in the experimental group was significantly lower in the comparison with visual impairment severity (F=5.1, p=0.01; Tukey test p<0.01) as well as the composite score (F=5.4, p=0.01; Tukey test p=0.01/0.05). CONCLUSIONS: Bilateral congenital cataracts influence vision-related quality of life of children as confirmed by low scores in all subscales assessed by the CVFQ with emphasis on the competence subscale. This instrument should be incorporated in the clinical assessment of children with bilateral cataracts as a measure of the impact of visual impairment in their quality of life.

Keywords: Quality of life; Cataract; Questionnaires; Vision; Low vision; Child; Caregivers

PURPOSE: To evaluate the knowledge of diabetic patients about ocular changes that could be caused by diabetes mellitus. METHODS: A hundred diabetic patients were interviewed in the period of three weeks. Those patients had a scheduled appointment at Endocrinology Sector of Guilherme Álvaro Hospital. The patients answered eight questions about ocular changes that could be caused by diabetes mellitus. RESULTS: Sixty-two female and 38 male, 93% with type II diabetes and mean age of 58.64 years (± 15.64 years) were evaluated. Forty patients had the diabetes diagnosed for more than 10 years. Seventy per cent of the interviewed patients presented some knowledge about diabetic ocular changes. The questions about treatment demonstrated that 30 patients did not know any kind of treatment and 63 assured that diabetic ocular changes could be treated. Regarding the treatment options, surgery was mentioned by 33% of the patients while, 27% mentioned glasses, 19% laser therapy and 18% mentioned eye drops. The majority (56%) associated their knowledge to doctor's orientation. Some of them understood that they should be examined every 6 months because they learned that ocular changes are likely to occur as the time of diabetes diagnosis increase. Seventy-eight patients denied any ocular treatment and 12 had already performed some treatment. CONCLUSION: This study demonstrated that 81% of the diabetic patients presents some knowledge about diabetes ocular changes, but they do not have precise informations.

Keywords: Diabetes mellitus; Diabetic retinopathy; Cataract; Health knowledge, attitudes, practice

PURPOSE: To evaluate the efficacy, complications and confocal microscopy corneal features of deep anterior lamellar keratoplasty using the air dissection technique in keratoconus. METHODS: Seventeen eyes with advanced keratoconus were submitted to this technique. Postoperative visual acuity and complication rate were analyzed. The thicknesses of full cornea tissue, host bed and donor button were measured, donor-host interface was also evaluated using confocal microscopy. RESULTS: Best-spectacle corrected visual acuity was 0.5 or better in 50% of the eyes. Complications occurred in five of seventeen patients (29.41%). Confocal microscopy demonstrated in four eyes the presence of hiperreflective structures at the interface, suggesting deposits and striae. Average corneal pachymetry, donor button and host bed thicknesses were respectively 609.00 ± 77.55 µm, 516.55 ± 43.65 µm and 92.50 ± 60.10 µm. CONCLUSIONS: Although technically challenging with the risk of intraoperative Descemet's membrane perforation, deep anterior lamellar keratoplasty with air dissection technique presents as an option for keratoconus treatment. Confocal microscopy demonstrated to be a useful method not only for the pachymetry measurement but also for the evaluation of interface by observing the absence of opacities in most of the cases.

Keywords: Cornea; Corneal transplantation; Keratoconus; Postoperative complications; Microscopy, confocal; Ophthalmologic surgical procedures

PURPOSE: To evaluate the complications of the use of diode laser in the treatment of acquired nasolacrimal obstruction. METHODS: Forty four procedures (transcanalicular dacryocystorhinostomy with diode laser with bicanalicular silicone tube intubation and local anesthesia) where performed from February 2002 to November 2007 in 41 patients (3 bilaterally), 32 women and 9 men. RESULTS: The most common intraoperative complications were disability to pass the Crawford probe (13.6%) and the laser probe (11.3%). Regarding postoperative complications, epiphora was the event of higher frequency (15.9%) followed by the non-intentional silastic extrusion by the patient (11.3%). CONCLUSION: Intraoperative and postoperative complications rate were similar of others articles that demonstrated the same surgical technique (with same laser).

Keywords: Lacrimal duct obstruction; Dacryocystorhinostomy; Lasers, semiconductor; Postoperative complications

PURPOSE: To evaluate and to correlate the central corneal thickness with the ocular axial length in patients with primary open-angle glaucoma, primary angle-closure glaucoma and individuals with normal eyes. METHODS: The sample was composed of 94 patients' eyes, divided into three groups constituted of 33 eyes of 33 primary open-angle glaucoma patients, 30 eyes of 30 primary angle-closure glaucoma patients and 31 normal eyes of 31 individuals. The central corneal thickness and the axial length were measured by ultrasonic pachymeter and biometry by A-scan ultrasound, respectively. RESULTS: The results showed a mean of 535.1 mm central corneal thickness in primary angle-closure glaucoma group, 520.6 mm in primary open-angle glaucoma group and 519.2 mm in normal eyes (p=0.18). The ocular axial length on primary angle-closure glaucoma group was 22.16 mm and on primary open-angle glaucoma and normal eyes group was 22.68 mm and 22.64 mm, respectively (p=0.13). There was no significant correlation between corneal thickness and axial length in the primary angle-closure glaucoma group (r=-0.085; p=0.65), the open-angle glaucoma group (r=-0.070; p=0.69) and the normal eyes group (r=-0.120; p=0.52). CONCLUSIONS: The results of this assay suggest that there is no correlation between the central corneal thickness and the axial length in patients with glaucoma and individuals with normal eyes.

Keywords: Cornea; Glaucoma, angle-closure; Glaucoma, open-angle; Visual fields

PURPOSE: To measure, using the retinal thickness analyzer, the mean foveal thickness and the mean perifoveal thickness values on patients suffering from mild non-proliferative diabetic retinopathy without clinically detectable macular edema (classified by the ETDRS study), and compare them with healthy individuals. METHODS: Observational analytical retrospective case-controlled study, on a sample of 79 eyes (39 affected and 40 control). The sample was selected from by exams previously taken at Centro Brasileiro de Cirurgia de Olhos (CBCO) (from 1999 to 2003) stored in the retinal thickness analyzer. The control group was selected according to specific criteria. The affected group was formed according to the research inclusive and exclusive criteria. The results were submitted to statistical tests for reliability. RESULTS: In the control group the values obtained for mean foveal thickness were around (mean=147.4 micra ± 15.4 micra standard deviation) and for mean perifoveal thickness were around (mean=193.8 micra ± 24.6 micra standard deviation). Patients with mild non-proliferative diabetic retinopathy presented foveal thickness around (mean=198.9 micra ± 48.3 micra standard deviation) and perifoveal thickness around (mean= 194.2 micra ± 26.4 micra standard deviation). CONCLUSION: An increase of mean foveal thickness on diabetic patients who have not shown clinical signs of macular edema was noted, which was proved by statistical tests. Such results are similar to the values found in medical literature.

Keywords: Diabetic retinopathy; Macular edema; Retina; Macula lutea; Fovea centralis; Diagnostic techniques, ophthalmological

PURPOSE: To define the main factors related with cornea non-donation of potential donors in a University Hospital of Curitiba. METHODS: The potential corneal donators who died at the I.C.U and at Emergency Section at Hospital Universitário Evangélico de Curitiba (HUEC) between November 2007 and February 2008 were selected. A close relative was interviewed by telephone, following a standard interview protocol. RESULTS: The most significant result was that from the 64 relatives interviewed, 60 (93.75%) had not been approached about the organ donation. From the same group, 32 (53.33%) would have consented the corneal donation if the approach had been performed. CONCLUSION: The low number of relatives approaches by physicians at the time of death was the main handicap in the process of corneal donation permission.

Keywords: Corneal transplantation; Tissue and organ procurement; Tissue donors; Eye banks; Informed consent

PURPOSE: To access the reliability of fine-needle aspiration biopsy in harvesting a sufficient amount of viable melanoma cells to establish a cell culture and maintain a melanoma cell line from an animal model of uveal melanoma. METHODS: For this study, fifteen male New Zealand albino rabbits had their right eye surgically inoculated with uveal melanoma cell line 92.1. The animals were immunosupressed with cyclosporine A using a dose schedule previously published. The animals were followed for 12 weeks. Intraocular tumor growth was monitored weekly by indirect ophthalmoscopy. After the fourth week, one animal was sacrificed per week preceded by fine-needle aspiration biopsy using a sharp 25-gauge, 1-inch long needle. Two separate aspirates were made from different areas of the tumor. Each aspirate was flushed to a separate cell culture media and sent for cell culture. The cells were frozen after two weeks when there were at least 1 million cells, which is enough to maintain a cell line. Cells were defrosted for HMB-45 immuno-stains to confirm the melanoma origin. RESULTS: Cell growth was observed from the samples harvested from 11 out of the 15 animals inoculated with uveal melanoma. All cell cultures, after defrost, immunoassayed positive for HMB-45. CONCLUSION: Fine needle aspiration biopsy seems to be a reliable method to harvest cells from solid intraocular melanomas in an animal model, to establish cell culture and to maintain a melanoma cell line.

Keywords: Tumor cells; Animal model; Experimental models; Melanoma; Biopsy, needle; Cell culture

PURPOSE: To compare the visual and clinical outcomes of Wavefront-guided laser in situ keratomileusis (Lasik) with Alcon CustomCornea® and Zyoptix® systems. METHODS: A prospective, randomized, masked and bilateral study was conducted. Fifty patients with preoperative spherical equivalent ranging from -1.00 to -6.50 D were enrolled for customized ablation in both eyes. All of them were submitted to Lasik CustomCornea® treatment in one eye and Zyoptix® in the other eye. Uncorrected visual acuity, best correct visual acuity (BCVA), manifest refraction, wavefront measurements, and contrast sensitivity testing were performed preoperatively and postoperatively at 1, 3 and 6 months. RESULTS: Preoperatively manifest refractive spherical equivalent was -3.29 ± 1.56 D in the CustomCornea® group and -3.22 ± 1.50 D in the Zyoptix® group. At 6 months, 86% of CustomCornea® eyes and 70% of Zyoptix® eyes had UCVA > 20/20. One hundred percent of the CustomCornea® group and 88% of the eyes in the Zyoptix® were within 0.50 D of emmetropia. In both groups, the contrast sensitivity improved. Spherical aberration increased in both groups, with the CustomCornea® group showing lower levels (p<0,001). CONCLUSION: There were no differences between the systems according to safety and effectiveness. The Zyoptix® platform showed greater spherical aberration.

Keywords: Myopia; Keratomileusis, laser in situ; Refractive errors; Comparative studies

PURPOSE: To compare the visual outcome, contrast sensitivity and wavefront analysis of patients that underwent cataract surgery and implantation of AcrySof SN60D3 multifocal intraocular lens with those who received the AcrySof SN60AT monofocal IOL. METHODS: This was a prospective clinical trial of forty eyes that received the multifocal IOL and thirty-two eyes that received the monofocal IOL after phacoemulsification. RESULTS: Values for total and spherical aberrations in the multifocal group were statistically lower than in the monofocal group. In the monofocal group, 75% achieved uncorrected intermediate visual acuities between Jaeger 1 and 6. In the multifocal group, 75% of the eyes achieved more than Jaeger 6. At least 87.5% of the multifocal group and 6.3% of the monofocal group achieved monocular uncorrected near acuity of 20/30 (J2, N5) or better. And 90.0% of the eyes in the multifocal group and 37.5% in the monofocal group achieved an uncorrected near acuity of 20/40 (J3, N6) or better. The mean spherical error was 0.11 D in the multifocal group and -0.18 D in the monofocal group (p=0.0379). The SN60D3 group compared to SN60AT group had low contrast sensitivity (log units) with statistically significant differences in 6.0 cpd in photopic conditions (p=0.014) and the SN60D3 group compared to SN60AT group had higher contrast sensitivity (log units) under mesopic conditions (p=0.044). CONCLUSION: The multifocal IOLs induced less spherical aberration than monofocal IOLs and predictably good uncorrected distance and uncorrected near acuities. However, contrast sensitivity was lower in the multifocal group.

Keywords: Intraocular lenses; Lens implantation, intraocular; Cataract; Phacoemulsification; Visual acuity

The purpose of this case report was to correlate optical coherence tomography findings and visual outcomes of patients with different degrees of commotio retinae. A 20-year-old male and a 23-year-old male that presented with decreased vision due to Berlin's edema after blunt ocular trauma were evaluated by optical coherence tomography and retinography. The visual acuity in the affected eye was 20/25 in the first patient and counting fingers in the second one. The ophthalmic examination showed traumatic uveitis and fundoscopy revealed mild retinal opacification in the first case and severe opacification in the latter. The optical coherence tomography confirmed the reduction of foveal depression on the first case and the disarrangement of all retinal layers on the second. There has been complete functional and anatomical resolution by optical coherence tomography in the first patient, while the second evolved to permanent visual loss. Optical coherence tomography is a useful method in the evaluation of retinal trauma, helping to understand its physiopathology and to predict its prognosis through the anatomical analysis of the affected region.

Keywords: Retina; Retinal diseases; Tomography, optical coherence; Eye injuries; Fundus oculi; Human; Adult; Male

Tay-Sachs disease is an autosomal recessive disorder of sphingolipid metabolism, caused by enzime hexosaminidase A deficiency that leads to an accumulation of GM2 in neurocytes which results in progressive loss of neurological function. The accumulation of lipid in retinal ganglion cells that leads to a chalk-white appearance of the fundus called "cherry red spot" is the hallmark of Tay-Sachs disease. It is also seen in others neurometabolic diseases as well as in central retinal artery occlusion. This case reports a child with Tay-Sachs disease in a family with four previous similar deaths without diagnostic.

Keywords: Gangliosidosis, GM2; Tay-Sachs disease; Nystagmus, pathologic; Macula lutea; Mucolipidosis; Human; Infant; Male

Uveitis is a group of intraocular inflammatory diseases that affects mainly patients of working age. Vogt-Koyanagi-Harada disease is a chronic, granulomatous, systemic and autoimmune disease with manifestations in the eye, skin, and hearing and nervous systems. Ocular complications include cataract, glaucoma, choroidal neovascular membrane formation, and subretinal fibrosis, which can lead to phthisis bulbi with profound low vision or even blindness. The purpose of this article is to present the visual rehabilitation of a young patient with pre phthisis bulbi as a complication of the uveitis. During the active stage of the disease the patient quit her studies in a crucial phase of her life. After clinical treatment and surgery, training program of optical device adaptation and residual visual optimization were performed. Due to the great patient's motivation, it was possible to reintegrate her to social life.

Keywords: Uveitis; Uveitis; Vision, low; Human; Female; Adult

The authors relate an uncommon case of pyogenic granuloma restricted to tarsal conjunctiva post retinopexy with scleral buckle.

Keywords: Cornea; Scleral buckling; Retinal detachment; Conjunctival neoplasms; Granuloma, pyogenic; Human; Male; Middle aged

To describe the case of a patient who presents retinal racemose hemangioma (Wyburn-Mason syndrome) and his 10 years follow-up. Ten years after the disease diagnosis, the ophthalmologic exam had no changes, as well as the campimetry and the retinography. The long term prognosis is controversial. Some authors report ocular lesions stability and others report progressive visual loss.

Keywords: Angiomatosis; Retina; Arteriovenous malformations; Syndrome

Discoid lupus is characterized by erythematosus lesions limited to the skin, covered by adherent white scales, which rise at places more exposed to the sun. A case of a 26 year-old woman, who was suffering for months from redness and burning of the eyes, and was been treated for blepharitis without resolution is reported. On the eyelids exam, ulcerated lesions were found, that were diagnosed as discoid lupus by immunofluorescence. When faced with chronic lesions on the eyelids that do not respond to medical treatment, even if the ancillary exams are normal, the incisional biopsy must be performed to elucidate the diagnosis and, if necessary, immunofluorescence should be done as well.

Keywords: Lupus erythematosus, discoid; Eyelids; Blepharitis; Fluorescent antibody technique; Skin ulcer

A case of an 85 year-old white man with bilateral senile cataract and advanced primary open-angle glaucoma uncontrolled with maximal medical therapy, asteroid hyalosis in OD and age-related macular degeneration in OS, submitted to a phacotrabeculectomy OU with mitomycin-C is reported. Because the surgery failed in both eyes, even after laser suture lysis, 5-FU injections and needling, it was necessary to reintroduce hypotensive agents. With the fixed combination of 0.5% timolol + 2% dorzolamide, a serous choroidal detachment with marked hypotony developed in both eyes; with 1% brinzolamide it only occurred in the OS. The IOP raised and the choroidal detachment resolved completely after discontinuation of the medications. The dilemma was finally solved through repeat needling with subconjunctival 5-FU injections.

Keywords: Trabeculectomy; Mitomycin; Choroid diseases; Ocular hypotension; Recurrence

This case report describes a young non-glaucomatous patient with neurofibromatosis and previous history of optic nerve glioma, which developed multiple wedge-shaped retinal nerve fiber layer defects close to a chorioretinal scar in the fellow eye. After discussing the different possible etiologies to the wedge-shaped defects, the disruption of the nerve fiber layer due to the chorioretinal lesion was considered the most plausible cause. However, further follow-up with visual field assessment, optic nerve head documentation and neuroimaging is mandatory in this case and may provide additional information to better understand it.

Keywords: Nerve fibers; Cicatrix; Retinal diseases; Optic nerve glioma

The inherited retinal dystrophies comprise a large number of disorders characterized by a slow and progressive retinal degeneration. They are the result of mutations in genes that express in either the photoreceptor cells or the retinal pigment epithelium. The mode of inheritance can be autosomal dominant, autosomal recessive, X linked recessive, digenic or mitochondrial DNA inherited. At the moment, there is no treatment for these conditions and the patients can expect a progressive loss of vision. Accurate genetic counseling and support for rehabilitation are indicated. Research into the molecular and genetic basis of disease is continually expanding and improving the prospects for rational treatments. In this way, gene therapy, defined as the introduction of exogenous genetic material into human cells for therapeutic purposes, may ultimately offer the greatest treatment for the inherited retinal dystrophies. The eye is an attractive target for gene therapy because of its accessibility, immune privilege and translucent media. A number of retinal diseases affecting the eye have known gene defects. Besides, there is a well characterized animal model for many of these conditions. Proposals for clinical trials of gene therapy for inherited retinal degenerations owing to defects in the gene RPE65, have recently received ethical approval and the obtained preliminary results brought large prospects in the improvement on patient's quality of life.

Keywords: Retina; Eye diseases, hereditary; Gene therapy; Genetic vectors; Gene transfer techniques

Age-related macular degeneration (AMD) is the most frequent cause of irreversible blindness in the elderly in developed countries. Although the etiology of AMD remains largely unknown, numerous studies have suggested that both genes and environmental risk factors significantly influence the risk of developing AMD. Recently, single nucleotide polymorphisms, DNA sequence variations found within the complement factor H (CFH) gene, have been found to be strongly associated with the development of AMD. Several other genes have had at least one positive association finding and deserve further exploration. The purpose of this review is to provide an extensive report of the current data of AMD genetics and the contribution of this knowledge helps to the better understanding of its pathophysiology.

Keywords: Macular degeneration; Age effect; Complement factor H; Base sequence; Polymorphism, single nucleotide; Inflammation