Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family.

PURPOSE: This study aimed to characterize an Asian Indian aniridia family for both the phenotype and genotype of the disease for a better clinical management. METHODS: The phenotype and genotype of the affected and unaffected individuals in the aniridia family were evaluated. The subjects underwent a standard ophthalmic evaluation followed by molecular screening of PAX6 gene in the peripheral blood for mutation detection. RESULTS: The three affected individuals had aniridia with several common features and an uncommon presentation of bilateral congenital ptosis. Two affected siblings, a brother and a sister, had aniridia, nystagmus, ptosis, increase in central corneal thickness, cataract, and foveal hypoplasia. The sister had features of glaucoma. The offspring of the sister had all the features except cataract and rise in intraocular pressure. Mutation screening of PAX6 gene helped in identifying a novel heterozygous pathogenic variation g. 31801757dupG (c. 216-19dupG) that resulted in a frameshift mutation that extended into exon 7. Based on the evaluation and diagnostic testing, the family was clinically managed along with genetic counselling. CONCLUSION: Molecular diagnostic testing helps in genetic counseling of the family with aniridia to understand the nature of the disease and detection of complications early for better management.

Moringa oleifera prevents selenite-induced cataractogenesis in rat pups.

PURPOSE: The aim of this study was to investigate the protective effects of the flavonoid fraction of Moringa oleifera leaves (FMO) on selenite cataract in vivo. METHODS: Rat pups of Sprague-Dawley strain initially weighing 10­12 g on day 8 were used for the study and grouped as control (G I), selenite induced (G II), and FMO treated (G III). The rat pups in G II and G III received a single subcutaneous injection of sodium selenite (4 µg/g body weight) on day 10 and G III was administered with FMO (2.5 µg/g body weight) from day 8 to 15. Cataract was visualized from day 16. The development of cataract was assessed and rat lenses were analyzed for the activities of antioxidant enzymes (superoxide dismutase and catalase), generation of reactive oxygen species, reduced glutathione, protein oxidation, and lipid peroxidation. FMO was subjected to in vitro antioxidant assays (2,2-diphenyl-picrylhydrazyl and superoxide scavenging assays). RESULTS: The total phenolic content of FMO was 4.4 mg of catechin equivalent/g dried plant material. The extract showed remarkable activity on 2,2-diphenyl-picrylhydrazyl (IC50 36 µg/mL) and in superoxide radical (IC50 33.81µg/mL) scavenging assays. FMO effectively prevented the morphological changes and oxidative damage in lens. FMO maintained the activities of antioxidant enzymes and sulfhydryl content and prevented reactive oxygen species generation and lipid peroxidation. CONCLUSIONS: FMO was effective in preventing cataractogenesis in selenite model by enhancing the activities of antioxidant enzyme, reducing the intensity of lipid peroxidation, and inhibiting free radical generation.

Broccoli regulates protein alterations and cataractogenesis in selenite models.

PURPOSE: To study the efficacy of Brassica oleracea var. italica (Broccoli) in the prevention of selenite induced biochemical changes and the incidence of cataractogenesis in vivo. METHODS: Eight day old Sprague-Dawley rat pups were divided into four groups: I-Control; II-Sodium selenite (4 mg/kg body weight) administered; III-Sodium selenite + quercetin; and IV-Sodium selenite + flavonoid fraction of broccoli (FFB). Treatment groups III and IV received quercetin and FFB intraperitoneally from 8th to 15th day at a concentration (2.0 mg/kg body weight). The development of cataract was assessed and graded by slit-lamp examination. Some relevant biochemical parameters-such as activities of superoxide dismutase (SOD), catalase, Ca(2+)ATPase, calpains, concentration of reduced glutathione (GSH), levels of calcium, lipid peroxidation product-thiobarbituric acid reacting substances (TBARS) and SDS-PAGE analysis of lens water soluble proteins (WSF) were analyzed. RESULTS: FFB modulates selenite-induced biochemical changes in albino rats. Lenses of Group I rats were clear but in Group II, all lenses developed dense opacification (grade 5 and 6), whereas mild opacifications were observed in Group III and Group IV (grade 2). Group III and Group IV lenses exhibited significantly higher values of antioxidant enzymes, Ca(2+)ATPase, and GSH, whereas lower values were obtained for TBARS, calcium, and calpains compared to Group II. Lens protein profile of water soluble proteins showed normal levels of Group III and Group IV compared to Group II lenses. CONCLUSION: FFB prevents selenite-induced cataractogenesis in albino rat pups, possibly by maintaining antioxidant status and ionic balance through Ca(2+) ATPase pump, inhibition of lipid peroxidation, calpain activation, and protein insolubilization, which have been reported in this article for the first time.