Remo Susanna Junior

Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil.

PurposeAxenfeld-Rieger syndrome is a genetically heterogenous, autosomal dominant disorder that is characterized by anterior segment defects, glaucoma, and extraocular anomalies. This study examined the two genes known to cause Rieger syndrome, PITX2 and FOXC1, for mutations in five Brazilian families with Axenfeld-Rieger syndrome. MethodsFive families with a total of 23 persons affected by Axenfeld-Rieger syndrome were recruited for this study. A sequencing-based mutation screen was undertaken for the PITX2 and FOXC1 genes. Linkage analysis was used to study one large family for which no mutations were detected in the PITX2 or FOXC1 genes. ResultsTwo of the five families harbored mutations in the PITX2 gene, but none of the families had a detectable FOXC1 mutation. Haplotypic analysis of three Rieger syndrome regions in a large family with Axenfeld-Rieger syndrome excluded linkage to the 4q25 (PITX2), 6p25 (FOXC1), and 13q14 (RIEG2) regions. ConclusionsIt appears that the PITX2 gene is responsible for a significant portion of Axenfeld-Rieger syndrome in the Brazilian population. Furthermore, there is also evidence for the presence of genetic heterogeneity of the disorder within the Brazilian population. Finally, a large family with Axenfeld-Rieger syndrome has been identified that does not appear to harbor any of the three known loci. Axenfeld-Rieger syndrome gene segregation in this family likely represents a novel locus.

Efficacy and safety of trabeculectomy with mitomycin C for childhood glaucoma: a study of results with long-term follow-up

OBJECTIVE To evaluate the safety and effectiveness of trabeculectomy with mitomycin C in the management of childhood glaucoma. INTRODUCTION The use of antifibrotic agents enhances the success of trabeculectomy performed in both adults and children. METHODS A retrospective chart review (1991–2001) of 114 patients (114 eyes) from 0–14 years of age with congenital or developmental glaucoma. These patients underwent trabeculectomy with mitomycin but had not been previously treated with any antifibrotic agent. RESULTS The mean patient age was 57.36 +/− 51.14 months (range: 0.5–168 months). Treatment was considered successful in 63 eyes (55.26%), with a mean intraocular pressure of 12.11 +/− 3.98 mmHg. For patients categorized as successfully treated, the mean follow-up time was 61.16 +/− 26.13 months (range 12–113 months). A post-surgical intraocular pressure of < 16 was observed in 47 eyes. The life-table success rates for intraocular pressure control at 24, 36, 48, and 60 months were 90.2%, 78.7%, 60.7% and 50.8%, respectively. The cumulative probability of failure was 40.8% at 12 months. Following surgery, endophthalmitis appeared in eight eyes (4.88%) after an average 36.96 months (range: 1.7–106 months). Other complications included expulsive hemorrhage, flat anterior chamber and bleb leak. DISCUSSION It has been reported in pediatric patients that trabeculectomy without adjunctive antimetabolites achieves a successful outcome in 30% to 50% of cases. In our study, treatment was considered successful in 63 eyes (55.26%) within 61.16 +/− 26.13 months of follow-up. CONCLUSIONS Trabeculectomy with mitomycin is safe and effective for short-term or long-term treatment of congenital or developmental glaucoma. The frequency of bleb-related endophthalmitis was no higher in these patients than that described in adults.

Effect of the AcrySof Natural intraocular lens on blue–yellow perimetry

PURPOSE: To assess the differences in blue–yellow perimetry values in patients with an AcrySof Natural intraocular lens (IOL) in 1 eye and a conventional AcrySof IOL in the fellow eye. SETTING: Cataract and glaucoma clinics of a medical school associated with a public hospital in Brazil. METHODS: Forty‐six patients had bilateral phacoemulsification and implantation of an AcrySof SN60AT IOL (Alcon) in 1 eye and an MA30AC IOL (Alcon) in the fellow eye. Blue–yellow perimetry was performed in both eyes, and the data were analyzed in blinded fashion using the Mann‐Whitney U test. RESULTS: No statistically significant differences were observed in short‐wavelength automated perimetry (SWAP) values between the 2 IOLs. CONCLUSION: There was no interference by the yellow filter of the AcrySof Natural IOL in blue–yellow perception as determined by SWAP.

Prevalence of open angle glaucoma in accompanying first degree relatives of patients with glaucoma

OBJECTIVE The aim of this study was to determine the prevalence of open angle glaucoma in first-degree relatives accompanying POAG patients during routine examination in a reference hospital. METHOD First-degree relatives of primary open angle glaucoma patients who accompanied their relatives to the glaucoma service of a reference hospital were screened for glaucoma. RESULTS One-hundred and one first-degree relatives were examined, of which 56.4% had never had their intraocular pressure measured. 10.9% had previously been diagnosed with glaucoma, and 5.9% were newly diagnosed during this study. CONCLUSIONS The eye examination of first-degree relatives identified a significant percentage of individuals with glaucoma. Despite being first-degree relatives of glaucoma patients, 56.4% of the companions had never had their eye pressure measured, demonstrating a lack of awareness about this disease.

Twenty-four-hour repeatability of diurnal intraocular pressure patterns in glaucomatous and ocular hypertensive individuals

OBJECTIVE: To verify the 24-hour repeatability of diurnal intraocular pressure patterns in glaucomatous and ocular hypertensive individuals. METHODS: A prospective analysis of 88 eyes from 88 ocular hypertensive or open-angle glaucoma patients was conducted on diurnal tension curves obtained by the same examiner on two consecutive days. The intraclass correlation coefficient test was used for statistical analysis. RESULTS: Eighty-eight eyes from 88 patients were analyzed. Fifty-seven patients (64.8%) were female. The mean age of all participants was 68.7 (SD 10.8, range 51–79) years. The intraclass correlation coefficient values for measurements at 8 AM, 11 AM, 2 PM, and 4 PM were 0.80, 0.82, 0.83, and 0.86, respectively (all intraclass correlation coefficient values, p<0.001). CONCLUSION: Diurnal intraocular pressure data collected on a single day characterize the diurnal intraocular pressure variability over 24 hours in primary open-angle glaucoma and ocular hypertensive patients.

Correlation between central corneal thickness and intraocular pressure peak and fluctuation during the water drinking test in glaucoma patients

OBJECTIVE: To investigate the correlation between central corneal thickness and outflow facility assessed by intraocular pressure peak and fluctuation during the water drinking test. METHODS: Fifty‐five newly diagnosed primary open‐angle glaucoma patients submitted to central corneal thickness measurements and water drinking test were enrolled in this retrospective study.;. Patients were divided into three groups according to their central corneal thickness. Pearsons Correlation test was performed in the groups with lower and higher pachymetric values. RESULTS: The mean age was 65,65 ± 28,28 years; 63,63% were female and 52,72% were caucasian. The mean central corneal thickness was 544,32 ± 36,86 µm, and the mean baseline intraocular pressure was 23,36 ± 6,26 mmHg. During the water drinking test, the mean intraocular pressure peak and mean intraocular pressure fluctuation were 30,43 ± 8,13 mmHg and 31,46 ± 18,46%, respectively. No relevant correlation was detected between the central corneal thickness and the intraocular pressure peak (r2 = 0,021) or between the central corneal thickness and the intraocular pressure fluctuation (r2 = 0,011). Group 1 presented a mean central corneal thickness of 505,81 ± 13,86 µm, and Group 3 was 583,55 ± 27,87 µm (p = 0,001). The mean intraocular pressure peak was 31,05 ± 9,05 mmHg and 27,83 ± 4,92 mmHg in Group 1 and in Group 3, respectively (p = 0,193). The difference of intraocular pressure fluctuation was not statistically significant between Group 1 (mean 28,47 ± 16,25%) and Group 3 (mean 33,27 ± 21,27%) (p = 0,43). CONCLUSION: In our case series, no correlation was found between central corneal thickness and water drinking test results.

Rho kinase inhibitors for glaucoma treatment - Review.

Glaucoma is a progressive optic neuropathy characterized by the loss of ganglion cells and their axons. A major risk factor for glaucomatous visual field loss is elevated intraocular pressure (IOP), and several studies have shown that lowering IOP reduces the risk of glaucomatous progression. Currently, an increasing number of researches involve Rho kinase inhibitors, which are a new pharmacological class of hypotensive agents specifically targeting the diseased trabecular outflow pathway. Rho kinase inhibitors reduce IOP by increasing aqueous humor drainage through the primary outflow pathway in the eye, which is known as the trabecular meshwork. In addition to improving the outflow facility of the trabecular meshwork, Rho kinase inhibitors also enhance retinal ganglion cell survival after ischemic injury and increase ocular blood flow.

Avaliação da camada de fibras nervosas na retinopatia diabética tratada por panfotocoagulação com laser de argônio

PURPOSE: To evaluate the alterations in the retinal nerve fiber layer in diabetic retinopathy treated by argon laser panphotocoagulation. METHODS: Prospective study of patients with diabetic retinopathy submitted to retinal panphotocoagulation. Initially, complete ophthalmologic examination and optical coherence tomography were performed. All patients were submitted to panphotocoagulation with argon laser in one of the eyes. The retinal fiber layer was evaluated by means of optical coherence tomography in the first week, in the first, third and sixth months after treatment. RESULTS: The sample was composed of 27 patients (27 eyes) with type 2 diabetes mellitus. The age varied from 41 to 64 years (mean of 53.7 ± 6.2 years), with 10 (37%) males and 17 (63%) females. Regarding the retinopathy, 22.2% presented proliferative DR and 77.8% very severe non proliferative DR. There was a significant increase in the fiber layer thickness measurements, remaining in the temporal sectors, 3 and 4 hours, after 6 months of follow-up. Reduction of thickness was not observed in any of the analyzed parameters. CONCLUSIONS: Reduction of the fiber layer thickness, identifiable by means of optical coherence tomography, in short and average term, was not observed in patients with diabetic retinopathy treated with panphotocoagulation. On the other hand, some sectors showed thickness increase during the follow-up.

Nerve fiber analyzer: a study on the false-positive results

Purpose: To determine the fiber layer analyzer GDxs specificity in a group of normal subjects, and the most altered parameters for this group. Methods: Normal patients were examined (complete ophthalmologic examination) and then we performed the fiber layer analysis with NFA- GDx (LDT). Total: 34 randomly selected eyes. Results and Conclusion: The specificity was 58.8%, and the corrected specificity 70.5%. The most altered parameter was symmetry (85.71%), and the less altered, the inferior and superior ratio (0%). When we have an isolated altered symmetry in a patient with normal IOP and normal optic disc, the false-positive diagnosis must be remembered; when a suspected glaucoma patient has an altered inferior ratio, glaucoma diagnosis must be remembered.

Choroidal thickness variation in highly myopic eyes during the water drinking test

PURPOSE To evaluate variations in choroidal thickness (CT) during the water drinking test (WDT) in emmetropic eyes (EE) and highly myopic eyes (ME) using spectral-domain optical coherence tomography (SD-OCT). METHODS Clinical trial performed at a tertiary care hospital comprising 30 randomly selected eyes. The WDT and SD-OCT macular scans were performed 10 and 45 min after water ingestion in 15 myopic and 15 EE of 15 healthy patients in each group. Primary study outcomes were average macular CT measured by SD-OCT and intraocular pressure (IOP) during the WDT. RESULTS The mean spherical equivalent refraction was 0.15 ± 0.24 D in emmetropic and -7.1 ± 1.75 D in ME (p<0.001). No statistical differences between EE and ME were observed during the WDT response. EE had higher CT compared with ME at the fovea (361.4 ± 55.4 vs 257.9 ± 95.3; p<0.001), 3 mm nasal to the fovea (158.0 ± 71.8 vs 122.5 ± 54.5; p =0.047), and 3 mm temporally to the fovea (310.6 ± 52.4 vs 247.6 ± 90.1; p=0.05). Regarding CT variation, significant differences in foveal CT at 10 min after water ingestion were observed in both EE and ME, with no statistically significant difference observed between groups. A moderate correlation between IOP peak during the WDT and CT was demonstrated in ME (r=0.52; p=0.04). CONCLUSIONS No statistically significant differences in CT variation during the WDT were observed between EE and ME, indicating similar behavior of the choroidal bed during the WDT in both groups. Further, CT was thinner in highly ME, with CT variation unable to explain elevations in IOP observed during the WDT.