PubMed · 10941656
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J D Primack, D T Azar. 2000. Refractive surgery for hyperopia.. https://doi.org/10.1097/00004397-200007000-00018
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Mutations in the forkhead transcription-factor gene (FOXC1), have been shown to cause defects of the anterior chamber of the eye that are associated with developmental forms of glaucoma. Discovery of these mutations was greatly facilitated by the cloning and characterization of the 6p25 breakpoint in a patient with both congenital glaucoma and a balanced-translocation event involving chromosomes 6 and 13. Here we describe the identification of novel mutations in the FOXC1 gene in patients with anterior-chamber defects of the eye. We have detected nine new mutations (eight of which are novel) in the FOXC1 gene in patients with anterior-chamber eye defects. Of these mutations, five frameshift mutations predict loss of the forkhead domain, as a result of premature termination of translation. Of particular interest is the fact that two families have a duplication of 6p25, involving the FOXC1 gene. These data suggest that both FOXC1 haploinsufficiency and increased gene dosage can cause anterior-chamber defects of the eye.
BACKGROUND: We examined the value of deep sclerectomy combined with phacoemulsification as a surgical technique in the peri- and postoperative phases. MATERIALS AND METHODS: Deep sclerectomy with phacoemulsification was carried out in 18 patients. Mean postoperative follow-up was 7.5 weeks. RESULTS: Deep sclerectomy was more difficult to perform than goniotrephination. We observed neither fibrin reaction nor hypotonic dysregulation (intraocular pressure, IOP, < 8 mmHg). Five patients required additional pressure-lowering drugs during postoperative IOP regulation. CONCLUSION: We consider the low inflammatory response in the early postoperative phase to outweigh the greater surgical difficulty and prolonged surgery time. Further studies must verify whether higher IOP during the early postoperative phase is sufficient for good long-term IOP regulation.
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