Is India's policy framework geared for effective action on avoidable blindness from diabetes?

BACKGROUND: The growing burden of avoidable blindness caused by diabetic retinopathy (DR) needs an effective and holistic policy that reflects mechanisms for early detection and treatment of DR to reduce the risk of blindness. MATERIALS AND METHODS: We performed a comprehensive health policy review to highlight the existing systemic issues that enable policy translation and to assess whether India's policy architecture is geared to address the mounting challenge of DR. We used a keyword-based Internet search for documents available in the last 15 years. Two reviewers independently assessed retrieved policies and extracted contextual and program-oriented information and components delineated in national policy documents. Using a "descriptive analytical" method, the results were collated and summarized as per themes to present status quo, gaps, and recommendations for the future. RESULTS: Lack of focus on building sustainable synergies that require well laid out mechanisms for collaboration within and outside the health sector and poor convergence between national health programs appears to be the weakest links across policy documents. CONCLUSIONS: To reasonably address the issues of consistency, comprehensiveness, clarity, context, connectedness, and sustainability, policies will have to rely more strongly on evidence from operational research to support decisions. There is a need to involve multiple stakeholders from multiple sectors, recognize contributions from not-for-profit sector and private health service providers, and finally bring about a nuanced holistic perspective that has a voice with implementable multiple sector actions.

Genetic and Dietary Factors Influencing the Progression of Nuclear Cataract.

PURPOSE: To determine the heritability of nuclear cataract progression and to explore prospectively the effect of dietary micronutrients on the progression of nuclear cataract. DESIGN: Prospective cohort study. PARTICIPANTS: Cross-sectional nuclear cataract and dietary measurements were available for 2054 white female twins from the TwinsUK cohort. Follow-up cataract measurements were available for 324 of the twins (151 monozygotic and 173 dizygotic twins). METHODS: Nuclear cataract was measured using a quantitative measure of nuclear density obtained from digital Scheimpflug images. Dietary data were available from EPIC food frequency questionnaires. Heritability was modeled using maximum likelihood structural equation twin modeling. Association between nuclear cataract change and micronutrients was investigated using linear and multinomial regression analysis. The mean interval between baseline and follow-up examination was 9.4 years. MAIN OUTCOME MEASURES: Nuclear cataract progression. RESULTS: The best-fitting model estimated that the heritability of nuclear cataract progression was 35% (95% confidence interval [CI], 13-54), and individual environmental factors explained the remaining 65% (95% CI, 46-87) of variance. Dietary vitamin C was protective against both nuclear cataract at baseline and nuclear cataract progression (ß = -0.0002, P = 0.01 and ß = -0.001, P = 0.03, respectively), whereas manganese and intake of micronutrient supplements were protective against nuclear cataract at baseline only (ß = -0.009, P = 0.03 and ß = -0.03, P = 0.01, respectively). CONCLUSIONS: Genetic factors explained 35% of the variation in progression of nuclear cataract over a 10-year period. Environmental factors accounted for the remaining variance, and in particular, dietary vitamin C protected against cataract progression assessed approximately 10 years after baseline.

Candidate gene study of macular response to supplemental lutein and zeaxanthin.

Supplementation with carotenoids is proposed to protect against age-related macular degeneration. There is, however, considerable variability in retinal macular pigment response, which may be due to underlying genetic variation. The purpose of this study was to determine whether genetic factors, which have been previously associated with cross-sectional macular pigment levels in the retina or serum lutein, also influence response to supplementation. To this end we conducted an association study in 310 subjects from the TwinsUK cohort between variants in 8 candidate genes and serum lutein and retinal macular pigment optical density (MPOD) levels before and after supplementation. Four variants were associated with MPOD response to supplementation (p < 0.05): rs11057841 (SCARB1), rs4926339 (RPE65), rs1929841 (ABCA1) and rs174534 (FADS1). We also confirmed previous associations between rs6564851 near BMCO1 (p < 0.001) and rs11057841 within SCARB1 (p = 0.01) and baseline measures of serum lutein; while the latter was also associated with MPOD response, none of the BMCO1 variants were. Finally, there was evidence for association between variants near RPE65 and ELOVL2 and changes in lutein concentration after supplementation. This study is the first to show association between genetic variants and response to carotenoids supplementation. Our findings suggest an important link between MP response and the biological processes of carotenoids transport and fatty acid metabolism.

The heritability of macular response to supplemental lutein and zeaxanthin: a classic twin study.

PURPOSE: Antioxidant supplements may reduce age-related macular degeneration (AMD) progression. The macular carotenoids are of particular interest because of their biochemical, optical, and anatomic properties. This classic twin study was designed to determine the heritability of macular pigment (MP) augmentation in response to supplemental lutein (L) and zeaxanthin (Z). METHODS: A total of 322 healthy female twin volunteers, aged 16-50 years (mean 40 ± 8.7) was enrolled in a prospective, nonrandomized supplement study. Macular pigment optical density (MPOD) measurements using two techniques (2-wavelength fundus autofluorescence [AF] and heterochromatic flicker photometry [HFP]), and serum concentrations of L and Z, were recorded at baseline, and at 3 and 6 months following daily supplementation with 18 mg L and 2.4 mg Z for a study period of 6 months. RESULTS: At baseline, mean MPOD was 0.44 density units (SD 0.21, range 0.04-1.25) using HFP, and 0.41 density units (SD 0.15) using AF. Serum L and Z levels were raised significantly from baseline following 3 months' supplementation (mean increase 223% and 633%, respectively, P < 0.0001 for both), with no MPOD increase. After 6 months' supplementation, a small increase in MPOD was seen (mean increase 0.025 ± 0.16, P = 0.02, using HFP). Subdivision of baseline MPOD into quartiles revealed that baseline levels made no difference to the treatment effect. Genetic factors explained 27% (95% confidence interval [CI] 7-45) of the variation in MPOD response. Distribution profiles of macular pigment did not change in response to supplementation. CONCLUSIONS: MPOD response to supplemental L and Z for a period of 6 months was small (an increase over baseline of 5.7% and 3.7%, measured using HFP and AF, respectively), and was moderately heritable. Further study is indicated to investigate the functional and clinical impact of supplementation with the macular carotenoids.

Couching in Nigeria: prevalence, risk factors and visual acuity outcomes.

PURPOSE: Couching is an ancient treatment for cataract which is still practiced in some of the poorer developing countries, particularly in sub-Saharan Africa. The purpose of this study is to describe risk factors for couching and visual acuity outcomes in a nationally representative sample of adults aged 40 years and above in Nigeria. METHODS: Probability in proportion size methods were used to identify a representative sample. Of the 15,375 adults enumerated, 13,582 were interviewed and examined. Examination included logMar acuities, slit lamp examination and dilated fundoscopy with digital fundus imaging. RESULTS: Almost half of the 583 eyes undergoing a procedure for cataract had been couched (249 eyes, 42.7%). Individuals living in rural areas (P = 0.033) and in the two underserved northern administrative zones (P = 0.33; P = 0.002) were more likely to have been couched. Visual outcomes were poor according to World Health Organization categories, with 55.8% of people and 73.1% of eyes having a presenting visual acuity of less than 3/60 and only 9.7% and 2.4% of people and eyes respectively having a good outcome (6/18 or better). None were wearing an aphakic correction, and with correction acuities improved but 42.6% of eyes were still blind (< 3/60). CONCLUSIONS: Couching is still widely practiced in Nigeria and visual outcomes are very poor. The population needs to be made aware of the risks associated with the procedure, and services for high quality, affordable cataract surgery need to be expanded, particularly in rural areas and in the north of the country.

Eye birth defects in humans may be caused by a recessively-inherited genetic predisposition to the effects of maternal vitamin A deficiency during pregnancy.

Congenital malformations of the eye can cause blindness in children. They occur throughout the world and in most cases the aetiology is unknown. Linkage studies have largely been unsuccessful and the risk to siblings is generally low. Epidemiological and laboratory evidence support a hypothesis that there may be genetic (recessive) predisposition to the teratogenetic effects of mild to moderate maternal vitamin A deficiency (VAD) during pregnancy. This may explain the higher prevalence of congenital eye anomalies in a part of Asian countries, where maternal VAD is common and consanguineous marriages are popular. Other congenital malformations commonly found in association with ocular coloboma (e.g. oesophageal fistulae and heart defects in CHARGE association) may also be VAD related. Mutations in a gene involved in the cellular access to vitamin A that normally protects the tissue or embryo from natural variation in dietary vitamin A intake, could render that individual intolerant of conditions of VAD. An interaction of this kind could also explain a proportion of "sporadic" cases in locations where VAD is uncommon. If this interaction is shown to be true, there are public health implications for the prevention of blindness due to congenital eye malformations. The hypotheses proposed above are reminiscent of the research leading to the discovery that folic acid supplementation could prevent neural tube defects. However, this form of intervention would be much more difficult with vitamin A, which is itself a powerful teratogen if present in excess.