Genome-Wide Meta-Analysis of Five Asian Cohorts Identifies PDGFRA as a Susceptibility Locus for Corneal Astigmatism

Corneal astigmatism refers to refractive abnormalities and irregularities in the curvature of the cornea, and this interferes with light being accurately focused at a single point in the eye. This ametropic condition is highly prevalent, influences visual acuity, and is a highly heritable trait. There is currently a paucity of research in the genetic etiology of corneal astigmatism. Here we report the results from five genome-wide association studies of corneal astigmatism across three Asian populations, with an initial discovery set of 4,254 Chinese and Malay individuals consisting of 2,249 cases and 2,005 controls. Replication was obtained from three surveys comprising of 2,139 Indians, an additional 929 Chinese children, and an independent 397 Chinese family trios. Variants in PDGFRA on chromosome 4q12 (lead SNP: rs7677751, allelic odds ratio = 1.26 (95% CI: 1.16–1.36), Pmeta = 7.87×10−9) were identified to be significantly associated with corneal astigmatism, exhibiting consistent effect sizes across all five cohorts. This highlights the potential role of variants in PDGFRA in the genetic etiology of corneal astigmatism across diverse Asian populations

The effect of basic fibroblast growth factor on regeneration in a surgical wound model of rat submandibular glands

This study developed an animal model of surgically wounded submandibular glands (SMGs) and investigated the effects of collagen gel with basic fibroblast growth factor (bFGF) on tissue regeneration of surgically wounded SMGs in vivo. The animal model was produced by creating a surgical wound using a 3-mm diameter biopsy punch in SMGs. The wound was filled with collagen gel with bFGF (bFGF group) or without bFGF (control group). In the animal model of surgically wounded SMGs, salivary glands without scar tissue around the wound area were observed with smaller areas of collagen gel. Small round and spindle-shape cells invaded the collagen gel in both groups after operation day (AOD) 5, and this invasion dramatically increased at AOD 7. Host tissue completely replaced the collagen gel at AOD 21. The invading immune cells in the group treated with collagen gel with bFGF were positive for vimentin, α-smooth muscle actin (αSMA), CD49f, c-kit and AQP5 at AOD 7. Similarly, the mRNA expression of vimentin, αSMA, CD49f, keratin19 and AQP5 was also increased. This study suggests that the use of collagen gels with bFGF improves salivary gland regeneration

Periocular microcystic adnexal carcinoma: Management and outcome with Mohs' micrographic surgery

Purpose: To report a series of patients with periocular microcystic adnexal carcinoma (MAC) treated with Mohs' micrographic surgery (MMS). Design: Prospective, interventional case series. Methods: This series included all patients treated with MMS for periocular MAC, who were monitored by the Skin and Cancer Foundation Australia between 1993 and 2002. Results: There were 5 patients (4 males, 1 female) with a mean age of 52 ± 12 years. Four tumors were located in the medial canthus and one in the lower lid.The tumor was initially misdiagnosed as basal cell carcinoma in 3 patients and squamous cell carcinoma in 1 patient. The average number of excision levels required for complete removal of the tumor during MMS was 2.2 (range 1-6). Perineural invasion was recorded in one patient.Five-year follow-up data was available for 3 patients, and there was no tumor recurrence in any of these cases. Conclusion: The low 5-year recurrence rate of periocular MAC with MMS emphasizes the importance of margin-controlled excision of this tumor

The incidence of rhegmatogenous retinal detachment in the Netherlands: Dutch Rhegmatogenous Retinal Detachment Study Group

Objective: To estimate the incidence and characteristics of rhegmatogenous retinal detachment (RRD) in The Netherlands in 2009. Design: Retrospective, observational case series. Participants: All patients with RRD in the Dutch population in 2009. Methods: By reviewing surgical logs, cases of primary RRD repair in 2009 were identified. Exclusion criteria included RRD before 2009 and exudative, tractional, or traumatic retinal detachments. Patient demographics, date of surgery, and lens status were documented. Incidence of RRD and 95% confidence intervals (CIs) were calculated based on the Poisson distribution. Age distribution, male-to-female ratio, and proportion of RRD patients with prior cataract extraction (CE) were determined. A Student t test was used to examine differences in the incidence of RRD between groups. Main Outcome Measures: Annual RRD incidence in the population and per gender-adjusted age category and proportion of RRD patients with prior CE. Results: The annual RRD incidence was 18.2 per 100 000 people (95% CI, 11.4–18.8), with a peak incidence of 52.5 per 100 000 people (95% CI, 29.4–56.8) between 55 and 59 years of age. The Bilateral RRD rate was 1.67%. Macula-off presentation occurred in 54.5% of all RRD patients. Prior CE was noted in 33.5% of RRD eyes. The male-to-female ratio was 1.3:1, and RRD incidence was statistically significantly more frequent in males (P 0.0001). Conclusions: Rhegmatogenous retinal detachment is predominantly a disease of the population older than 50 years, and males are more susceptible to RRD. The annual RRD incidence is highly dependent on demographic characteristics