To compare the efficacy of non-penetrating deep sclerectomy without implant with Crozafon-De Laage punch trabeculectomy, and to evaluate the effect of simultaneous temporal approach phacoemulsification on both techniques. Department of Ophthalmology of the University of Palermo. Prospective randomized clinical trial. Patients and intervention procedures: Sixty-five patients (65 eyes) with primary open angle glaucoma (POAG) or pseudoexfoliative glaucoma (PEXG): 32 eyes underwent non-penetrating deep sclerectomy (NPDS), 17 as single procedure and 15 combined with phacoemulsification (phaco-NPDS), and 33 eyes underwent punch trabeculectomy (PT), 18 single and 15 with phaco (phaco-PT). The patients were randomly assigned to each procedure. No adjuvants, such as Nd: YAG laser goniopuncture, laser suturelysis, and antimetabolites were used. Postoperative complications, number of antiglaucoma medications, and IOP level were checked at each control. Complete success indicated the achievement of the target IOP without antiglaucoma medications, while qualified success indicated the same goal with or without medications. These categories were assessed at two target IOP levels, namely < or =21 mm Hg and < or =17 mm Hg in all four groups. The mean follow-up period was 22.5 +/- 2.5 months. The mean preoperative IOP was 30.2 mm Hg in NPDS eyes, 26.8 in phaco-NPDS eyes, 32.1 in PT eyes, and 27.0 in phaco-PT ones, without significant intergroup difference. At the end point the mean IOP was 17.7 +/- 0.8, 15.7 +/- 0.9, 14.2 +/- 1.1, and 13.8 +/- 1.1 mm Hg respectively with postoperative IOP significantly lower (P = 0.005) than preoperative IOP in all groups. No difference was observed among groups at any observation time when simple and combined surgery were compared. Significant difference at the end point was found between NPDS and PT (P = 0.030). As for complete and qualified success with a < or =21 and < or =17 mm Hg target IOP no significant differences were noticed in all groups. Among postoperative complications, hypotony was significantly more frequent in both PT groups when compared with the NPDS groups. The same was true, but relating only to the single procedures, for shallow anterior chamber and choroidal detachment. The Kaplan-Meier cumulative survival curves relating to the qualified success rate in the four surgical groups for a < or =21 mm Hg target IOP (log rank, P = 0.564) and for a < or =17 mm Hg target IOP (log rank, P = 0.591) showed no significant intergroup differences. When the < or =21 mm Hg target IOP was considered, a mild positive trend in combined procedures (both phaco-NPDS and phaco-PT) was found in comparison with simple procedures. At lower IOP target (ie, < or =17 mm Hg) a better trend was found in favor of simple or combined PT procedure. Both techniques, NPDS and PT, without enhancements (ie, implants or antimetabolites) control IOP efficaciously at our end point. Phacoemulsification combined with penetrating and non-penetrating procedures does not seem to interfere with final results. When a lower target IOP and probability of success over time are considered, PT, single or combined, exhibits a better trend. PT, therefore, could be more suitable for higher IOP levels or longer life expectancies.

Purpose. Heterozygous mutations in the GUCY2D gene, which encodes the membrane-bound retinal guanylyl cyclase-1 protein (RetGC-1), have been shown to cause autosomal dominant inherited cone degeneration and cone–rod degeneration (adCD, adCRD). The present study was a comprehensive screening of the GUCY2D gene in 27 adCD and adCRD unrelated families of these rare disorders. methods. Mutation analysis was performed by direct sequencing as well as PCR and subsequent restriction length polymorphism analysis (PCR/RFLP). Haplotype analysis was performed in selected patients by using microsatellite markers. results. GUCY2D gene mutations were identified in 11 (40%) of 27 patients, and all mutations clustered to codon 838, including two known and one novel missense mutation: p.R838C, p.R838H, and p.R838G. Haplotype analysis showed that among the studied patients only two of the six analyzed p.R838C mutation carriers shared a common haplotype and that none of the p.R838H mutation carriers did. conclusions. GUCY2D is a major gene responsible for progressive autosomal dominant cone degeneration. All identified mutations localize to codon 838. Haplotype analysis indicates that in most cases these mutations arise independently. Thus, codon 838 is likely to be a mutation hotspot in the GUCY2D gene.