To report the spectrum of ophthalmic findings in patients with Stargardt dystrophy or fundus flavimaculatus who have a specific sequence variation in the ABCR gene. Patients: Twenty-nine patients with Stargardt dystrophy or fundus flavimaculatus from different pedigrees were identified with possible disease-causing sequence variations in the ABCR gene from a group of 66 patients who were screened for sequence variations in this gene. Methods: Patients underwent a routine ocular examination, including slitlamp biomicroscopy and a dilated fundus examination. Fluorescein angiography was performed on 22 patients, and electroretinographic measurements were obtained on 24 of 29 patients. Kinetic visual fields were measured with a Goldmann perimeter in 26 patients. Single-strand conformation polymorphism analysis and DNA sequencing were used to identify variations in coding sequences of the ABCR gene. Results: Three clinical phenotypes were observed among these 29 patients. In phenotype I, 9 of 12 patients had a sequence change in exon 42 of the ABCR gene in which the amino acid glutamic acid was substituted for glycine (Gly1961Glu). In only 4 of these 9 patients was a second possible disease-causing mutation found on the

Bardet-Biedl syndrome (BBS) is a genetic disorder with the primary features of obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism. Patients with BBS are also at increased risk for diabetes mellitus, hypertension, and congenital heart disease. BBS is known to map to at least six loci: 11q13 (BBS1), 16q21 (BBS2), 3p13-p12 (BBS3), 15q22.3-q23 (BBS4), 2q31 (BBS5), and 20p12 (BBS6). Although these loci were all mapped on the basis of an autosomal recessive mode of inheritance, it has recently been suggested-on the basis of mutation analysis of the identified BBS2, BBS4, and BBS6 genes-that BBS displays a complex mode of inheritance in which, in some families, three mutations at two loci are necessary to manifest the disease phenotype. We recently identified BBS1, the gene most commonly involved in Bardet-Biedl syndrome. The identification of this gene allows for further evaluation of complex inheritance. In the present study we evaluate the involvement of the BBS1 gene in a cohort of 129 probands with BBS and report 10 novel BBS1 mutations. We demonstrate that a common BBS1 missense mutation accounts for approximately 80% of all BBS1 mutations and is found on a similar genetic background across populations. We show that the BBS1 gene is highly conserved between mice and humans. Finally, we demonstrate that BBS1 is inherited in an autosomal recessive manner and is rarely, if ever, involved in complex inheritance.

Purpose Adverse drug reactions (ADRs) have an appreciable impact on patients' health. Little is known however about ADR reporting in ambulatory care environments especially in low-and middle-income countries. Consequently, our aim was to determine knowledge, attitudes and practices (KAP) among health care professionals (HCPs) towards ADR reporting in primary health care (PHC) facilities in South Africa. The findings will be used to direct future activities. Methods Descriptive, cross-sectional design using quantitative methodology among 8 public sector community health care centres and 40 PHC clinics in the Tshwane Health District, Gauteng Province. A self-administered questionnaire was distributed to 218 HCPs, including all key groups. Results A total of 200 responses were received (91.7%). Although an appropriate attitude towards ADR reporting existed, the actual frequency of ADR reporting was low (16.0%). Of the respondents, 60.5% did not know how to report, where to report or when to report an ADR and 51.5% said the level of their clinical knowledge made it difficult to decide whether or not an ADR had occurred. Over 97.5% stated they should be reporting ADRs with 89% feeling that ADR reporting is a professional obligation and over 70% that ADR reporting should be compulsory. When results were combined, the overall mean score in terms of positive or preferred practices for ADR reporting was 24.6% with pharmacists having the highest scores. Conclusion Under-reporting of ADRs with gaps in KAP was evident. There is a serious and urgent need for education and training of HCPs on ADR reporting in South Africa.