A novel mutation in the PRPH2 gene in a Chinese pedigree with retinitis pigmentosa and angle-closure glaucoma.

BACKGROUND: Retinitis pigmentosa (RP) is a rare, progressive, and hereditary disorder that leads to the progressive loss of vision and visual field, and in some cases blindness. The specific relationship between RP and glaucoma has been debated for decades. METHODS: In this study, we examined a Han RP family with concomitant angle-closure glaucoma (ACG), performed an inductive analysis of their clinical features and assistant results, and applied whole-exome sequencing (WES) technology for a molecular diagnosis. RESULTS: A novel transversion mutation (c.626 T > A) was identified in the peripherin-2 (PRPH2) gene in the proband, resulting in the substitution of Valine to aspartic acid in codon 209. A full ophthalmic examination showed that the proband with the c.626 T > A mutation had a typical RP manifestation, with close angles; however, the proband's elder brother, who lacked the novel mutation, had a normal fundus and open angles. CONCLUSION: Our results extend the genetic mutation spectrum of PRPH2 in RP, and provide evidence to support a genetic correlation between RP and ACG.

Modified Scleral Tunnel to Prevent Tube Exposure in Patients With Refractory Glaucoma.

PURPOSE: To present and evaluate modified scleral tunnel in prevention of tube exposure following Ahmed valve implantation in refractory glaucoma. METHODS: In the Affiliated Eye Hospital of Shandong University of Traditional Chinese Medicine, a retrospective study was conducted in 36 eyes of 34 patients who were diagnosed with refractory glaucoma and underwent Ahmed glaucoma valve implantation. In the surgery, the modified scleral tunnel was done to prevent tube exposure. RESULTS: At the end of follow-up (mean 21.68±9.25 mo), there was no conjunctival tube exposure in all 36 eyes. The mean intraocular pressure was 18.3±6.79 mmHg, and 8 eyes needed 1 to 3 types of drugs to decrease intraocular pressure. CONCLUSIONS: The modified scleral tunnel technique in Ahmed glaucoma valve implantation is able to prevent conjunctival tube exposure in the patients with refractory glaucoma.

Evaluation of Ex-PRESS implantation combined with phacoemulsification in primary angle-closure glaucoma.

To evaluate the safety and efficacy of Ex-PRESS (R50) implantation combined with phacoemulsification in primary angle-closure glaucoma (PACG) patients with cataract.Twenty-four eyes of 24 patients with unregulated PACG underwent combined cataract and glaucoma surgery. After phacoemulsification and intraocular lens implantation, the Ex-PRESS (R-50) was inserted into the anterior chamber under a scleral flap. The intraocular pressure (IOP), best corrected visual acuity (BCVA), number of medications, and complications were recorded preoperatively as well as postoperatively on day 7 and at 1, 3, 6, and 12 months.The mean follow-up was 16.4 ±â€Š2.5 months (range 14-21 months) and the mean age of the patients was 64.7 ±â€Š6.8 years (range 56-78 years). The mean IOP was 20.4 ±â€Š5.4 mm Hg preoperatively and decreased to 10.2 ±â€Š2.8, 13.1 ±â€Š2.7, 14.9 ±â€Š4.1, 14.3 ±â€Š3.9, and 14.0 ±â€Š3.6 mm Hg on day 7 and at 1, 3, 6, and 12 months after surgery (all P < 0.005). At 12 months, the mean BCVA was 0.62 ±â€Š0.33 and the number of medications was 0.3 ±â€Š0.6. Most of complications were resolved spontaneously and conservatively.The Ex-PRESS implantation combined with phacoemulsification cataract extraction is safe and effective for reducing IOP and antiglaucoma medications in PACG patients with cataract.