Otofaciocervical syndrome (OFCS) is an autosomal recessively inherited disorder characterized by facial dysmorphism, external ear anomalies with preauricular pits and hearing impairment, branchial cysts or fistulas, anomalies of the vertebrae and the shoulder girdle, and mild intellectual disability. In a large consanguineous family with OFCS from Turkey, we performed whole-exome sequencing (WES) of a single pooled DNA sample of four affected individuals. Filtering for variants with a percentage of alternate reads ≥ 90 % and a coverage of at least five reads identified only a single novel homozygous variant, c.497G>T, located in PAX1 that co-segregated with the disease in the family. PAX1 encodes a transcription factor with a critical role in pattern formation during embryogenesis in vertebrates. The mutation is predicted to substitute the glycine at position 166 to valine (p.G166V) within the highly conserved paired-box domain of the PAX1 protein. We performed a dual luciferase reporter assay to examine the transactivation of a regulatory sequence in the Nkx3-2 promoter region, which is a direct target of mouse Pax1 transcriptional regulation. We observed a significantly reduced transactivation in HEK293T cells overexpressing Pax1(G157V) in comparison to Pax1(WT) expressing cells, indicating a reduced DNA-binding affinity of the mutant protein. Taken together, our results show that the strategy of pooling DNA is a powerful, cost-effective application for WES in consanguineous families and establish PAX1 as a new disease-causing gene for OFCS and as part of the EYA-DACH-SIX-PAX network, important in early embryogenesis.

ÖzetAmaç: Kontakt lens keratitlerinin mikrobiyolojik inceleme sonuçlar›n›, uygulanan ampirik tedavi baflar›s›n› ve tedavi baflar›s›n› etkileyen faktörleri bildirmektir. Gereç ve Yöntem: Klini¤imize baflvuran kontakt lens mikrobik keratit olgular›n›n kontakt lensleri içinde bulunduklar› lens kaplar› ile mikrobiyolojik incelemeye gönderildi. Sonuçlar ç›kana dek ampirik tedavi (vankomisin ve seftazidim fortifiye damla kombinasyonu veya moksifiloksasin damla) baflland›. Antibiyogram sonucuna göre tedavilerin etkinli¤i de¤erlendirildi. Sonuçlar: Çal›flmaya dahil edilen 33 olgunun (13 erkek, 20 kad›n) tamam› refraktif amaçl› ayl›k silikon hidrojel kontakt lens kullan›c›lar› idi. Yafl ortalamas› 25,85±7,30 (18 ve 42 aras›) idi. Baflvuru an›nda olgular›n ortalama görme keskinlikleri 0,31±6,5 standart s›ra (0,01 ila 10/10 aras›nda) idi. Yirmi befl (%75,75) olguda tek, 5 (%15,15) olguda ise iki mikroorganizma izole edilirken 3 (%9,09) olguda sufl izole edilemedi. ‹zole edilen mikroorganizmalardan 2'si küf mantar›, di¤erleri ise bakteri idi. En s›k izlenen mikroorganizma Pseudomonas aeuroginosa (%39,4) idi. Antibiyogramda kombine fortifiye vankomisin ve seftazidim tedavisinin duyarl›l›¤› yüksek bulundu¤u fakat siprofiloksasinin %100 etkili oldu¤u gözlendi. Tedavi bitiminde olgular›n ortalama görme keskinlikleri 0,88 +/-1,0 standart s›ra (0,4 ila tam (=onda on) aras›nda) idi. Tart›flma: Kontakt lens keratitlerinde, kontakt lensin ve içinde bulundu¤u solüsyonun mikrobiyolojik incelemesi de¤eri yüksek bir klinik uygulamad›r. Kontakt lens kullan›m kurallar› ve olas› riskleri konusunda hasta bilinçlendirilmesi yads›namayacak derecede önemlidir. Göz kayb›na varabilen komplikasyonlara neden olabilecek kullan›m hatalar›n› bertaraf edebilmemiz için hijyen kurallar›na uyulmas›n›n önemi ve olas› acil durumda ne yap›lmas› gerekti¤i hastalara mutlaka anlat›lmal›d›r. SummaryPurpose: To report the microbiological results, success of used empirical therapy and factors affecting the therapy success in contact-lens-associated keratitis. Material and Method: A total of 33 patients (13 male, 20 female) with contact-lens-associated keratitis who attended our clinic were included in this study. The contact lenses and the containers of the patients were sent for microbiological analysis. Empirical therapy (combination of vancomycin and fortified ceftazidime drops or moxifloxacin drops) was started while waiting for the analysis results. The efficacy of the treatment modalities was evaluated according to the antibiogram results. Results: All 33 patients were monthly refractive silicone hydrogel contact lens wearers. The mean age was 25.850±7.30 (range: 18-42) years. The mean visual acuity at the time of admission was 0.31±6.5 Snellen lines (range: 0.01-1.0). While 1 microorganism in 25 (75.75%) cases and 2 microorganisms in 5 (15.15%) cases were isolated, no strain was isolated in 3 (9.09%) cases. Two of the isolated microorganisms were fungi and the rest were bacteria. The most common microorganism was Pseudomonas aeruginosa (39.4%). The antibi...

Herein, an awkward case of globe perforation with a bullet-entering from the right posterior scapular region and leaving the body from the right orbit through the eye - is reported. Route of the bullet could be devastating - as it passed through the neck and the maxillofacial region-however by chance no vital damage occurred. Its path was assessed by plain radiography and computed tomography scans. Sometimes prediction of the trajectory is very difficult without additional radiological investigations. Especially, in the case of any high velocity projectile wounding, physician must be aware of the fact that the bullet's course will not be a linear but most probably a complicated one. Prognosis of the injury depends on the path of the bullet or shrapnel fragment, close clinical observation, an open-minded approach, and the multidisciplinary care. Moreover, even the crime investigation might be needed.

Objectives:To investigate the corneal biomechanical properties of keratoconic eyes following penetrating keratoplasty (PKP).Materials and Methods:Thirty-five patients (70 eyes) were enrolled to this prospective study. Operated and contralateral keratoconic eyes were defined as Group 1 and 2, respectively. All patients underwent ophthalmological examination and measurements of corneal biomechanical properties by Ocular Response Analyzer (ORA), intraocular pressure (IOP) by Goldmann applanation tonometry, and central corneal thickness (CCT) by Pentacam. Shapiro-Wilk W test was performed to test normality of the data. The statistical significance was evaluated with the paired t-test and Wilcoxon signed ranks test. Pearson correlation and Spearman rho tests were used for correlation analysis.Results:The average age and male/female ratio were 31.34±11.65 (15-60) years and 21/14, respectively. The mean values of the data obtained from Group 1 and 2 respectively were: corneal hysteresis (CH): 9.35±1.66, 8.18±1.84 mmHg (p=0.013), corneal resistance factor (CRF): 9.48±1.96, 7.14±2.05 mmHg (p<0.001), IOPcc: 16.90±4.32, 14.26±3.69 mmHg (p=0.004), IOPg: 15.45±4.61, 10.91±3.97 mmHg (p<0.001), IOPapl: 14.26±3.11, 13.09±2.54 mmHg (p=0.046), and central corneal thickness (CCT): 545.64±60.82, 442.60±68.14 μM (p<0.001). The positive correlation between CH and CRF was moderate (r=0.444) in Group 1 and strong (r=0.770) in Group 2. There was a moderate negative correlation between CH and IOPcc in both groups (r=-0.426, r=-0.423), but CH was not correlated with IOPg or IOPapl in either group. There were weak to strong positive correlations between CRF and all IOP values in both groups. There was no correlation between CRF and CCT in Group 1 (r=0.075) and a very weak correlation in Group 2 (r=0.237). Only IOPcc and IOPg were strongly correlated in both groups.Conclusion:Better understanding of corneal biomechanical properties is essential for elucidating the pathophysiology and diagnosis of several corneal pathologies such as keratoconus. The biomechanical properties of keratoconic eyes seem to be closer to normal values after PKP.

ÖzetAmaç: Penetran keratoplasti (PKP) uygulanan hastaların ameliyat sonrası memnuniyetlerini değerlendirmek. Ge reç ve Yön tem: Kliniğimizde PKP uygulanan 100 ardışık hastaya 15 soruluk bir anket uygulandı. Olguların yaşam kaliteleri, beklentileri ve sonuç memnuniyetleri derecelendirildi. So nuç lar: Anketi cevaplayan 100 ardışık hastanın (52 kadın, 48 erkek) yaş ortalamaları 47,2±21,5 (10-85) idi. Hastaların PK'dan sonra ortalama takip süresi en az 12 ay olmak üzere 26,1±26,0 ay idi. Hastaların PKP endikasyonları keratokonus (%27), büllöz keratopati (%26), keratit sekeli (%25), korneal distrofi (%12) ve travma sekeli (%10) idi. Ameliyat öncesi görme keskinliği ortalama 3 metreden parmak sayma (Işık hissi -0,3 arasında) iken ameliyat sonrası görme keskinliği ortalama 0,4 (Işık hissi -1,0 arasında) idi (p<0,01). Hastaların %77'si nakilden önce nakil sonrasında daha iyi görmeyi beklediklerini beyan ettiler. Hastaların %70'i kornea naklinden sonra yaşam kalitelerinin daha iyi olduğunu belirttiler. Hasta memnuniyeti ile cinsiyet, yaş ve ameliyat öncesi görme keskinliği düzeyleri arasında istatistiksel açıdan anlamlı bir korelasyon saptanmadı (p>0,05). Sonuç görme keskinliği istatistiksel açıdan anlamlı tek parametre idi (p=0,01). Hastaların memnuniyeti endikasyonlara göre gruplandığında sıralama keratit sekeli, korneal distrofiler, travma, keratokonus ve büllöz keratopati şeklinde idi. Tar t›fl ma: PKP sonrası hasta memnuniyeti açısından tek anlamlı parametre, sonuç görme keskinliği olarak bulunmuştur. Bu nedenle kornea nakli uygulanacak her hasta, endikasyona özel biçimde bilgilendirilmelidir. Ayrıca, potansiyel sonuç görme keskinliği ve ameliyattan sonra karşılaşılabilecek olası problemler hakkında da aydınlatılmalıdır. (Turk J Ophthalmol 2013; 43: 348-52) Anah tar Ke li me ler: Memnuniyet, penetran keratoplasti, yaşam kalitesi Sum maryPur po se: To evaluate the patient satisfaction after penetrating keratoplasty (PK). Ma te ri al and Met hod:A 15-question survey was given to 100 consecutive patients who had undergone PK in our clinic. Quality of life, expectancy and result satisfaction of the patients were graded. Re sults: Mean age of the 100 (52 female, 48 male) consequtive patients who participated in the survey was 47.2±21.5 (10-85) years. Mean follow-up time of the patients after PK was 26.1±26.0 months, with a minimum of 12 months. The indications of PK were keratoconus (27%), bullous keratopathy (26%), keratitis sequela (25%), corneal dystrophy (12%), and trauma sequela (10%). Mean preoperative visual acuity was counting fingers from 3 meters (light perception -0.3), whereas mean postoperative visual acuity was 0.4 (light perception -1.0) (p<0.01). Seventy seven percent of the patients declared that prior to PK, they expected to see better after the transplantation. Seventy percent of the patients expressed that their quality of life was better after transplantation. No statistically significant correlation of patient satisfaction with gender, age and preoperative visual acuity was detected (p>0.05). Final ...