A novel mutation in C5L2 gene was associated with hyperlipidemia and retinitis pigmentosa in a Chinese family.

BACKGROUND: Previous studies indicated that hyperlipidemia was associated with retinitis pigmentosa (RP). We aimed to identify the mutations in the C5L2 gene which was reported to be associated with hyperlipidemia in a Chinese family with (RP). METHODS: The Proband from the family was screened for mutations in the C5L2 gene that was known to cause hyperlipidemia. Cosegregation analysis was performed in the available family members. Linkage analysis was performed for one missense mutation to calculate the likelihood of its pathogenicity. One hundred and fifty unrelated, healthy Chinese subjects were screened to exclude nonpathogenic polymorphisms. RESULTS: By direct sequencing method, we identified a novel mutation (Thr196Asn) in C5L2 gene. In this family, each affected family members with RP showed a heterozygous mutation in the C5L2 gene. And all the carriers with heterozygous mutation have increased serum lipid levels in this family. CONCLUSIONS: The present study has extended the mutation spectrum of C5L2, and Thr196Asn mutations in C5L2 were associated with RP and serum lipid levels.

Bandage Contact Lens Application Reduces Fibrotic Wound Healing of Flap Margins after FS-LASIK: A Prospective Randomized Clinical Trial.

PURPOSE: To assess the efficacy of applying bandage contact lens (BCL) in reducing the fibrotic healing response of flap margins following femtosecond laser in situ keratomileusis (FS-LASIK). METHODS: In this prospective, randomized, interventional, observer-masked trial, 41 patients (82 eyes) with myopia and/or myopic astigmatism were scheduled to undergo FS-LASIK. After surgery, patients were fitted with a BCL in one eye (BCL eyes, n=41) but not in the contralateral eye (control eyes, n=41), following randomized allocation of the BCL to the left or right eye of each patient. The BCL was left in place overnight and removed the following morning. All eyes subsequently received standardized postoperative treatments. Patients were followed up for 6 months. We evaluated patients' self-reported postoperative symptom scores for pain, photophobia, tearing, and foreign-body sensation. At 6 months after surgery, we examined the corneal flap margin and adjacent regions, and photographed them using slit-lamp biomicroscopy, to subjectively evaluate the wound healing response. RESULTS: Postoperative pain and photophobia were milder in the BCL group than in the control group (P=0.041 and P=0.003, respectively), but patients felt more foreign-body sensation in the eye with a BCL than in the control eye (P=0.001). There was no significant difference in tearing score between BCL eyes and control eyes (P=0.118). Regarding the fibrotic healing response of the flap margin, control eyes showed a wide, bright peripheral circumferential band with a spiculated edge and high reflectivity; conversely, BCL eyes showed a markedly narrower and smoother peripheral circumferential band, with a less spiculated edge and lower reflectivity (P < 0.001). CONCLUSION: Patients felt less discomfort in eyes treated with a BCL after FS-LASIK than in control eyes. BCL-treated eyes also had a less intense wound healing response at the flap margins than control eyes in some of patients. BCLs may merit consideration as a treatment option after FS-LASIK for special patients. This trial is registered with ChiCTR1800016579.

Laser-Assisted Subepithelial Keratectomy versus Laser In Situ Keratomileusis in Myopia: A Systematic Review and Meta-Analysis.

This systematic review was to compare the clinical outcomes between laser-assisted subepithelial keratectomy (LASEK) and laser in situ keratomileusis (LASIK) for myopia. Primary parameters included mean manifest refraction spherical equivalent (MRSE), MRSE within ±0.50 diopters, uncorrected visual acuity (UCVA) ≥20/20, and loss of ≥1 line of best-corrected visual acuity (BCVA). Secondary parameters included flap complications and corneal haze. Twelve clinical controlled trials were identified and used for comparing LASEK (780 eyes) to LASIK (915 eyes). There were no significant differences in visual and refractive outcomes between the two surgeries for low to moderate myopia. The incidence of loss of ≥1 line of BCVA was significantly higher in moderate to high myopia treated by LASEK than LASIK in the mid-term and long-term followup. The efficacy (MRSE and UCVA) of LASEK appeared to be a significant worsening trend in the long-term followup. Corneal haze was more severe in moderate to high myopia treated by LASEK than LASIK in the mid-term and long-term followup. The flap-related complications still occurred in LASIK, but the incidence was not significantly higher than that in LASEK. LASEK and LASIK were safe and effective for low to moderate myopia. The advantage of LASEK was the absence of flap-related complications, and such procedure complication may occur in LASIK and affect the visual results. The increased incidence of stromal haze and regression in LASEK significantly affected the visual and refractive results for high myopia.

Excimer laser phototherapeutic keratectomy for the treatment of clinically presumed fungal keratitis.

This retrospective study was to evaluate treatment outcomes of excimer laser phototherapeutic keratectomy (PTK) for clinically presumed fungal keratitis. Forty-seven eyes of 47 consecutive patients underwent manual superficial debridement and PTK. All corneal lesions were located in the anterior stroma and were resistant to medication therapy for at least one week. Data were collected by a retrospective chart review with at least six months of follow-up data available. After PTK, infected corneal lesions were completely removed and the clinical symptoms resolved in 41 cases (87.2%). The mean ablation depth was 114.39 ± 45.51 µ m and diameter of ablation was 4.06 ± 1.07 mm. The mean time for healing of the epithelial defect was 8.8 ± 5.6 days. Thirty-four eyes (82.9%) showed an improvement in best spectacle-corrected visual acuity of two or more lines. PTK complications included mild to moderate corneal haze, hyperopic shift, irregular astigmatism, and thinning cornea. Six eyes (12.8%) still showed progressed infection, and conjunctival flap covering, amniotic membrane transplantation, or penetrating keratoplasty were given. PTK is a valuable therapeutic alternative for superficial infectious keratitis. It can effectively eradicate lesions, hasten reepithelialization, and restore and preserve useful visual function. However, the selection of surgery candidates should be conducted carefully.

The effect of multivitamin/mineral supplements on age-related cataracts: a systematic review and meta-analysis.

Antioxidant vitamins supplements have been suggested as a strategy to decrease the risk of age-related cataract development. However, the results from observational studies and interventional trials of associations between antioxidant vitamins A, C, and E and cataract development have been inconsistent. We aim to evaluate the effectiveness of multivitamin/mineral supplements for decreasing the risk of age-related cataracts by conducting a systematic review and meta-analysis. In September 2013, we searched multiple databases to identify relevant studies including both cohort studies and randomized controlled trials (RCTs). A random-effects model was used to calculate the pooled relative risks (RR) with a 95% confidence interval (CI). Twelve prospective cohort studies and two RCTs were included. Pooled results from the cohort studies indicated that multivitamin/mineral supplements have a significant beneficial effect in decreasing the risk of nuclear cataracts (RR: 0.73; 95% CI: 0.64-0.82), cortical cataracts (RR: 0.81; 95% CI: 0.68-0.94), and any cataracts (RR: 0.66; 95% CI: 0.39-0.93). In addition, there were no decreases in the risk of posterior capsular cataracts (RR: 0.96; 95% CI: 0.72-1.20) or cataract surgery (RR: 1.00; 95% CI: 0.92-1.08). The two RCTs demonstrated that multivitamin/mineral supplements could decrease the risk of nuclear cataracts. There is sufficient evidence to support the role of dietary multivitamin/mineral supplements for the decreasing the risk of age-related cataracts.