Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging. J Med Genet 1996;33:603-6. 7 Treacher Collins Syndrome Collaborative Group. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet 1996;12:130-6. 8 Wise CA, Chiang LC, Paznekas WA, et al. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region. Proc Nat Acad Sci 1997;94:3110-5. 9 Splendore A, Silva EO, Alonso LG, et al. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum Mutat 2000;16:315-22. 10 Edwards SJ, Gladwin AJ, Dixon MJ. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.
Acetazolamide treatment was started in combination with topical ketorolac. At a daily dose of 500 mg, CFT and visual acuity were 262 microm and 0.34 LogMAR, respectively. Dose reduction of acetazolamide to 250 mg/day was associated with worsening of the CFT to 335 microm. CFT was subsequently measured at 230 microm on increasing the acetazolamide dose to 500 mg/day and measured 353 microm when acetazolamide dose was halved. CFT was 478 microm when acetazolamide was ceased.CONCLUSIONS. In this report, the authors have shown a dose-related response of pseudophakic CME to oral acetazolamide. This would suggest that the clinical response to oral acetazolamide may be titrated to the extent of CME and monitored by OCT.
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