RESUMEN
BACKGROUND: Myopia or nearsightedness is a spherical error of refraction, whereby the images are focused in front of retina. Eye, being an organ rich in activated oxygen species, requires a high level of antioxidants to protect the unsaturated fatty acids. Apolipoprotein E (APOE) is one of the proteins that is produced by Muller cells within the retina and is also endowed with antioxidant properties. Genetic polymorphism of APO E is controlled by three common alleles e3, e2 and e4 and rare e1, e4v at the APOE structural gene locus. Different isoforms of APO E differ in their antioxidant properties, and the e4 allele has lesser ability to combat oxidative stress. AIMS: Myopia being a disease influenced by oxidative stress, the present study was undertaken to find association of myopia with APO E polymorphism. MATERIALS AND METHODS: A total of 187 myopic cases and 192 controls were genotyped for apolipoprotein E polymorphism. RESULTS: In both controls and myopic cases, E3/3 genotype was found to be the most frequent one. There was an increase in E3/4 genotype frequency among male probands, high myopia cases and probands with early age at onset, suggesting that the E3/4 genotype might confer risk for myopia development. CONCLUSION: This association with E3/4 genotype might predispose susceptible individuals to develop high myopia and early onset myopia.
RESUMEN
A family with the segregation of retinitis pigmentosum (RP) in combination with enamel hypoplasia (amelogenesis imperfecta - AI) is recorded. Family information collected over three generations revealed expression of the condition in two of the cousins born to half sibs. Parents of both the patients are cousins and are phenotypically normal. None of the sibs and other relatives of the patients are affected with any ophthalmic condition or dental anomalies. Ophthalmic evaluation of the patients revealed retinitis pigmentosa with nystagmus and optic atrophy and dental examination showed the presence of AI with hypoplastic enamel,' severe attrition of incisors and molars with narrowing of root canal and pulp chambers. Retinitis pigmentosum is a highly heterogeneous condition with 11 genes identified for an autosomal dominant, 13 for autosomal recessive and 5 for X-linked inheritance. Amelogenesis imperfecta is also a genetically heterogeneous condition showing all the three types of segregation. To the best of our knowledge co-segregation of RP with AI has not been reported. The family reported here may be considered as a new syndrome caused by a rare autosomal recessive gene with pleitropic effect affecting the retina and as well as the normal dentition. Alternatively it could also represent a rare coincidence of the two conditions.
RESUMEN
An 18 year old female with multiple ocular disorders showed more or less cardinal features similar to that of an autosomal dominantly inherited Marfan Syndrome. Related features with variable symptoms were seen in her sibs. Major and minor manifestations of MFS like cardio-vascular, respiratory problems, spine deformities, arachnodactyly were not observed. Pedigree analysis showed high incidence of consanguinity.
RESUMEN
Leukemia are the family of hematological malignancies of bone marrow resulting in uncontrolled proliferation of white blood cells. We have analyzed the MDA levels in 108 leukaemic patients. In the present study, the mean of the plasma MDA levels in leukaemic patients were found to be significantly elevated (572.41+11.79) as compared to that of the normal controls (375.84+5.48) indicating the possible role of invivo peroxidation of membrane lipids in the etiology of leukaemias. Sexwise comparision of the MDA levels in the leukaemic groups showed an elevated levels of lipid peroxidatrion byproducts among the affected males (588.23+14.49) as compared to that of the femeles (541.61+ 19.57). With respect to the age, the MDA levels were seen to be progressively increasing with advancing age. The highest levels of MDA were found in the age group of 30-40 years in an the types of leukaemia. In general the treated group showed comparatively low levels of MDA (543.13+13.46) to that of the untreated group (631.21+20.05) indicating the effect of chemotherapy on MDA levels. With respect to stage, the M5 stage among the AML type (619.67+28.22), L3 among the ALL type (769.00) and blast crisis among the CML group (619.67+112.89) were exhibiting elevated levels of MDA.