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Biomedical subjects

Remo Susanna

Publications and source records attributed to Remo Susanna.

20 records · Page 2Linked to original sources

Intraocular pressure fluctuations in medical versus surgically treated glaucomatous patients.

The purpose of this study was to compare the IOP fluctuations in the daytime tension curves of glaucoma patients under ocular hypotensive therapy with those of patients previously submitted to trabeculectomy. We also evaluated the IOP peaks and fluctuations for the same patients in response to the water-drinking test (WDT). The study included 30 primary open-angle glaucoma (POAG) patients using ocular hypotensive medications and with no history of previous intraocular surgery (medical group), and 30 POAG patients previously submitted to one or more trabeculectomies though taking no medication at the time of the study (surgical group). All patients were submitted to a diurnal tension curve--DTC (8:30-17:00/3-hour intervals) followed by the WDT. The IOP peak and IOP fluctuation during the diurnal tension curve were significantly greater in the medical group than in the surgical group. The same was observed following the WDT. From an overall baseline IOP of 10.6 mmHg, the mean IOP change following the WDT was 13% in the surgical group and 40% in the medical group. Patients submitted to trabeculectomy have less TOP fluctuations during the diurnal tension curve and following a water-drinking provocative test. This effect could represent an additional benefit of surgery in controlling the intraocular pressure of glaucomatous patients.

Aged↗

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

PURPOSE: Axenfeld-Rieger syndrome is a genetically heterogeneous, 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. METHODS: Five 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. RESULTS: Two 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. CONCLUSIONS: It 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.

Brazil↗