A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy.

Familial exudative vitreoretinopathy (FEVR) is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization. In this report, we describe a novel missense mutation of the Norrie disease gene (NDP) in a Chinese family with X-linked FEVR. Ophthalmologic evaluation was performed on four male patients and seven unaffected individuals after informed consent was obtained. Venous blood was collected from the 11 members of this family, and genomic DNA was extracted using standard methods. The coding exons 2 and 3 and their corresponding exon-intron junctions of NDP were amplified by polymerase chain reaction and then subjected to direct DNA sequencing. A novel missense mutation (c.310A>C) in exon 3, leading to a lysine-to-glutamine substitution at position 104 (p.Lys104Gln), was identified in all four patients with X-linked FEVR. Three unaffected female individuals (III2, IV3, and IV11) were found to be carriers of the mutation. This mutation was not detected in other unaffected individuals. The mutation c.310A>C (p.Lys104Gln) in exon 3 of NDP is associated with FEVR in the studied family. This result further enriches the mutation spectrum of FEVR.

[Clinical observation of the combination of phacoemulsification and trabeculectomy].

OBJECTIVE: To evaluate the therapeutic effects of combined phacoemulsification and trabeculectomy surgery with intraocular lens implantation and compare the results of two different approaches. METHODS: In a retrospective study, forty eyes of 35 cases cataract patients with primary open-angle or chronic angle-closure glaucoma were assigned to undergo either a single incision (single incision group, 15 eyes) or two-incision (double incision group, 25 eyes). best-corrected visual acuity (BCVA), pre-and post-operation intraocular pressure (IOP), postoperative bleb formation and postoperative complications were analyzed and compared between the two procedures. All cases were followed up for over 12 months. RESULTS: The mean IOP of 35 cases (40 eyes) in 12 months postoperatively was (14.35 +/- 3.03) mm Hg (1 mm Hg = 0.133 kPa), which was distinctly lower than that of preoperative [(35.76 +/- 4.39) mm Hg (t = 25.39, P < 0.001)]. There was no significant difference between the two groups in the mean IOP preoperation and 1 week, 1 month, 3, 6, 12 months postoperation. The postoperative BCVA was between 0.2 and 1.2, BCVA < 0.3 was found in three eyes (7.5%), and > or = 0.3 in 37 eyes (92.5%), BCVA was significantly improved in 4 eyes after surgery (chi(2) = 31.03, P < 0.001). There was no obviously difference in visual acuity between the two groups at one week, 3 months postoperatively (chi(2) = 0.22, and 0.05, P > 0.05), the type I or II bleb formation was detected in 35 eyes (87.5%). Post operation, among the eyes, 13 eyes were single-incision while 22 eyes with double-incision. No severe postoperative complications were revealed in all of operated cases. CONCLUSIONS: The procedures of combined phacoemulsification with trabeculectomy is safe, effective surgery for cataract patients combined with glaucoma. There were no differences in IOP, BCVA developing, bleb formation in early stage postoperatively using either single-incision or double-incision.