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Background: Primary congenital glaucoma (PCG), occurs due to the developmental defects in the trabecular meshwork and anterior chamber angle in children. PCG exhibits genetic heterogeneity and the CYP1B1 gene has been widely implicated worldwide. Despite the diverse mutation spectra, the clinical implications of these mutations are yet unclear. The present study attempted to delineate the clinical profile of PCG in the background of CYP1B1 mutations from a large cohort of 901 subjects from India (n=601) and Brazil (n=300)., Methods: Genotype-phenotype correlations was undertaken on clinically well characterized PCG cases from India (n=301) and Brazil (n=150) to assess the contributions of CYP1B1 mutation on a set of demographic and clinical parameters. The demographic (gender, and history of consanguinity) and quantitative clinical (presenting intraocular pressure [IOP] and corneal diameter [CD]) parameters were considered as binary and continuous variables, respectively, for PCG patients in the background of the overall mutation spectra and also with respect to the prevalent mutations in India (R368H) and Brazil (4340delG). All these variables were fitted in a multivariate logistic regression model using the Akaike Information Criterion (AIC) to estimate the adjusted odds ratio (OR) using the R software (version 2.14.1)., Results: The overall mutation spectrum were similar across the Indian and Brazilian PCG cases, despite significantly higher number of homozygous mutations in the former (p=0.024) and compound heterozygous mutations in the later (p=0.012). A wide allelic heterogeneity was observed and only 6 mutations were infrequently shared between these two populations. The adjusted ORs for the binary (demographic) and continuous (clinical) variables did not indicate any susceptibility to the observed mutations (p>0.05)., Conclusions: The present study demonstrated a lack of genotype-phenotype correlation of the demographic and clinical traits to CYP1B1 mutations in PCG at presentation. However, the susceptibility of these mutations to the long-term progression of these traits are yet to be deciphered.

Background: Many screening instruments for the diagnosis of dementia are not education and culture fair. In addition, despite good sensitivity and specificity, they result in unacceptable levels of false positives when used in the community. This study aimed to develop appropriate instruments for populations with low literacy and to consider strategies to reduce the false positive rates in low prevalence settings., Methods: Activities of daily living, which are not influenced by education and culture, were used to develop a patient screen and an informant version to identify people with dementia. The instruments were validated in the hospital and in the community setting against the standards of DSM-IV and the education-adjusted 10/66 Dementia Research Group diagnosis of dementia., Results: The instruments were administered to 90 patients attending a hospital and 101 subjects living in the community in Vellore, South India. The psychometric properties and inter-rater reliability of these screening instruments were good. While the sensitivity and specificity of the patient screen and the informant version were good their false positive rates were high in the community setting. However, the false positive rates reduced when these instruments were used in combination., Conclusion: The patient screen and the informant version are short culture- and education-fair instruments. They reduce false positive rates, when used in combination in the community.