PubMed · 16581441
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Arif O Khan. 2006. Recognizing posterior microphthalmos.. https://doi.org/10.1016/j.ophtha.2006.01.013
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PURPOSE: Mutations in the cytochrome P450 1B1 (CYP1B1) gene are a frequent cause of primary congenital glaucoma (PCG) in different ethnic groups. Cytochrome P450 proteins are monooxygenases, which catalyze many reactions involved in the metabolism of drugs as well as steroids and other lipids. The repeated occurence of several mutations in various ethnic groups raises the question if founder effects or mutation-prone sites in CYP1B1 are the cause for this observation. METHODS: A total of 30 individuals (26 PCG patients, three Rieger's anomaly patients, and one variant carrier), presenting 17 variants in CYP1B1 (15 mutations and two variations) were included in our study. We sequenced the entire genomic region of CYP1B1 and analyzed microsatellites flanking the gene in all individuals and constructed haplotypes for all variations using a combination of single nucleotide polymorphisms and microsatellites. RESULTS: For the CYP1B1 genomic region, we identified five extended haplotypes associated with 17 variations. These haplotypes were complemented with microsatellite information from the region surrounding this gene. A total of eight CYP1B1 mutations were found more than once, each of them presenting one identical haplotype in different individuals. Six mutations were represented in different ethnic groups. CONCLUSIONS: Our results confirm founder effects for most of CYP1B1 mutations. Most of these mutations must have occurred as unique events in the past.
BACKGROUND: Toxic anterior segment syndrome (TASS), a complication of cataract surgery, is a sterile inflammation of the anterior chamber of the eye. An outbreak of TASS was recognized at an outpatient surgical center and its affiliated hospital in December 2002. METHODS: Medical records of patients who underwent cataract surgery during the outbreak were reviewed, and surgical team members who participated in the operations were interviewed. Potential causes of TASS were identified and eliminated. Feedwater from autoclave steam generators and steam condensates were analyzed by use of spectroscopy and ion chromatography. RESULTS: During the outbreak, 8 (38%) of 21 cataract operations were complicated by TASS, compared with 2 (0.07%) of 2,713 operations performed from January 1996 through November 2002. Results of an initial investigation suggested that cataract surgical equipment may have been contaminated by suboptimal equipment reprocessing or as a result of personnel changes. The frequency of TASS decreased (1 of 44 cataract operations) after reassignment of personnel and revision of equipment reprocessing procedures. Further investigation identified the presence of impurities (eg, sulfates, copper, zinc, nickel, and silica) in autoclave steam moisture, which was attributed to improper maintenance of the autoclave steam generator in the outpatient surgical center. When impurities in autoclave steam moisture were eliminated, no cases of TASS were observed after more than 1,000 cataract operations. CONCLUSION: Suboptimal reprocessing of cataract surgical equipment may evolve over time in busy, multidisciplinary surgical centers. Clinically significant contamination of surgical equipment may result from inappropriate maintenance of steam sterilization systems. Standardization of protocols for reprocessing of cataract surgical equipment may prevent outbreaks of TASS and may be of assistance during outbreak investigations.
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