Sibel İnan

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1) is a very rare autosomal-recessive disorder characterized by a complex phenotype with high neonatal lethality, associated with the following main clinical features: hyperthermia and feeding difficulties in the neonatal period, scoliosis, and paradoxical sweating induced by cold since early childhood. CS/CISS1 can be caused by mutations in cytokine receptor-like factor 1 (CRLF1). However, the physiopathological role of CRLF1 is still poorly understood. A subset of CS/CISS1 cases remain yet genetically unexplained after CRLF1 sequencing. In five of them, exome sequencing and targeted Sanger sequencing identified four homozygous disease-causing mutations in kelch-like family member 7 (KLHL7), affecting the Kelch domains of the protein. KLHL7 encodes a BTB-Kelch-related protein involved in the ubiquitination of target proteins for proteasome-mediated degradation. Mono-allelic substitutions in other domains of KLHL7 have been reported in three families affected by a late-onset form of autosomal-dominant retinitis pigmentosa. Retinitis pigmentosa was also present in two surviving children reported here carrying bi-allelic KLHL7 mutations. KLHL7 mutations are thus associated with a more severe phenotype in recessive than in dominant cases. Although these data further support the pathogenic role of KLHL7 mutations in a CS/CISS1-like phenotype, they do not explain all their clinical manifestations and highlight the high phenotypic heterogeneity associated with mutations in KLHL7.

Neutrophil-to-Lymphocyte Ratio as a Marker in Patients with Non-arteritic Anterior Ischemic Optic Neuropathy.

BACKGROUND Non-arteritic anterior ischemic optic neuropathy (NAION) is the most common acute optic neuropathy in patients over the age of 50 and is the second most common cause of permanent optic nerve-related visual loss in adults after glaucoma. Although the precise cause of NAION remains elusive, the etiology of NAION is believed to be multifactorial. AIMS To evaluate the utility of neutrophil-to-lymphocyte ratio (NLR) as a simple and readily available prognostic factor for clinical disease activity in patients with NAION. STUDY DESIGN Case-control study. METHODS Forty-five patients with the diagnosis of NAION and 50 age- and sex-matched controls with/without any systemic or ocular diseases except cataract were retrospectively enrolled in the study. Demographic characteristics and laboratory findings including complete blood count of all patients and control subjects were obtained from the electronic medical record. The neutrophil and lymphocyte counts were recorded and the NLR was calculated. RESULTS White blood cell, neutrophil, NLR and platelet values of the NAION patients were significantly higher than those of the controls (p<0.001, p<0.001, p=0.004, p=0.037, respectively). Initial NLR values were negatively correlated with initial and the third month best corrected visual acuity levels in the study group. The optimum NLR cut-off point for NAION was 1.94. CONCLUSION NLR could be considered as a new inflammatory marker for assessment of the severity of inflammation in NAION patients with its quick, cheap, easily measurable property with routine complete blood count analysis.

Keratokonus Progresyonunun Önlenmesinde Korneal Kollajen Çapraz Bağlama Tedavisinin Etkinliği

Amac: Ilerleyici keratokonusu bulunan hastalarda korneal kollajen capraz baglama tedavisinin etkinliginin arastirilmasi amaclanmistir.Bulgular: 6 aylik takip suresinin sonunda, korneal topografide, tum hastalarin Sim K max degeri ortalama 0,95±0,22 D azalma gostermistir. Sim K min degeri ise 8 gozde (%80) azalirken (ortalama 0,39 D) 2 gozde (%20) degisiklik olmamistir. Santral kornea kalinliklari ise ortalama 10,1±1,37μm azalma gostermistir. En iyi duzeltilmis gorme keskinlikleri tedavi oncesi ve sonrasina gore incelendiginde 6 hastada (%20) tedavi oncesine gore artis gosterdigi, 4 hastada (%40) ise gorme keskinliklerinin sabit kaldigi tespit edilmistir.Sonuc: Apollon cihazi ile klinigimizin ilk uygulamalarinin sonuclarina gore korneal kollajen capraz baglama tedavisi keratokonus progresyonunu durdurmada etkili bir yontem olarak gorunmektedir. Tedavinin kaliciliginin degerlendirilebilmesi icin uzun donemli genis serili, prospektif calismalara ihtiyac duyulmaktadir.

Analysis of corneal astigmatism with NIDEK axial length scan in caucasian cataract surgery candidates

Aims and Objectives: The aim of the study was to analyze and quantify the pattern of corneal astigmatism in Caucasian cataract surgery patients using a new optical biometer (axial length [AL] Scan, NIDEK Co., Gamagori, Japan). Patients and Methods: The datasets of cataract surgery patients acquired between March 1, 2014, and April 15, 2016, were collected and analyzed. The corneal power (flat keratometry, steep keratometry, and mean keratometry), negative cylinder power, and axis of astigmatism were recorded. Keratometry values were optically measured by optical low coherence interferometry (AL-Scan, NIDEK Co., Ltd.,) before cataract extraction. Results: The study comprised 1233 eyes of 838 consecutive cataract candidates with a mean age of 66.8 ± 10.7 years (range 40–97 years). The mean keratometry value and corneal astigmatism were 43.69 ± 1.61 D and 0.84 ± 0.70 D, respectively. Corneal astigmatism of 1.00 D or greater was found in 344 eyes (27.9%), and 548 eyes (44.4%) had against-the-rule astigmatism. A trend toward decreasing J0 and J45 with age was found by linear regression models. The per-year increase in age was associated with a J0 and J45 decrease of 0.002 D and 0.001D, respectively. Conclusion: This study provides the distribution of astigmatism axis and power for cataract patients in age subsets from Turkey.

Factors Affecting Compliance to Intravitreal Anti-Vascular Endothelial Growth Factor Therapy in Patients with Age-Related Macular Degeneration

Objectives: To determine factors influencing compliance in patients with neovascular age-related macular degeneration (n-AMD) undergoing intravitreal anti-vascular endothelial growth factor (VEGF) therapy. Materials and Methods: The files of n-AMD patients recommended treatment with ranibizumab were reviewed retrospectively. The treatment regimen was 3 consecutive monthly injections followed by monthly follow-up with intravitreal injections as needed (pro re nata, PRN). Demographic and ocular characteristics were recorded. The patients were categorized into 2 groups: full compliance to treatment, or incomplete loading schedule and/or irregular maintenance treatment. All patients were interviewed by phone about factors affecting continuation of treatment. Results: Mean age of the 314 patients (160 female, 154 male) included in the study was 71.6±9.1 years. A total of 246 patients (78.3%) could complete 3 consecutive injections at 1-month intervals after the start of treatment; 57 patients (18.2%) did not attend monthly follow-up during the 1-year follow-up period following the 3 consecutive monthly injections. Overall, 39.8% of the patients were not able to fully comply with the ranibizumab treatment by PRN regimen for 1 year. Better visual acuity at baseline, smaller lesion size, living closer to the hospital, higher education and sociocultural level, and better financial status were determined as factors affecting patient compliance. The most frequent reasons to discontinue treatment were fear of injection, disbelief in the benefit of the treatment, financial limitations, continuation of treatment at another center, and comorbid systemic diseases. Conclusion: Patient compliance and success rates of anti-VEGF therapy may be increased by determining the factors affecting patient compliance and raising awareness about n-AMD among patients and their relatives.

Comparison of Anterior Segment Measurements Obtained by Aladdin Optical Biometer and Sirius Corneal Topography

Objectives: To assess the agreement of anterior segment parameter measurements derived from Aladdin optical biometer using optical low coherence interferometer and Sirius corneal topography using combined Scheimpflug-Placido disk. Materials and Methods: Data obtained using the Aladdin and Sirius systems from 110 eyes of 59 subjects who had no health problems other than refractive errors were retrospectively evaluated. Anterior chamber depth (ACD), flat (K1) and steep (K2) keratometry readings, and white-to-white distance (WTW) measurements taken with both devices were noted. Results: The mean age of the patients was 47.31±18.57 years (range, 25 to 79 years). Mean ACD was 3.35±0.4 mm using Aladdin and 3.42±0.44 mm using Sirius. Mean difference in ACD was 0.075 mm greater with Sirius than Aladdin (p<0.001). K1 measurement obtained by Aladdin was an average of 0.409 D higher (p<0.001). No statistically significant differences were detected between the two devices in respect to K2 and WTW measurements (p=0.18, p=0.85 respectively). Pearson correlation analysis showed high correlation between the two devices for all measurements (r=0.985, 0.895, 0.961 and 0.766 for ACD, K1, K2 and WTW respectively; p<0.001). Conclusion: Anterior segment parameters obtained by Aladdin optical biometer and Sirius anterior segment analysis system correlated well with each other and measurement differences between the devices were clinically negligible except for K1 values.

Santral Kornea Kalınlığının Ölçümünde Scheimpflug Fotoğraflama, Optik Kohorens Tomografi ve Ultrasonik Pakimetri Yöntemlerinin Karşılaştırılması

Objective: To compare Scheimpflug photography(SP), optical coherence tomography(OCT) and ultrasonic pachymetry(USP) techniques in central corneal thickness(CCT) measurement.Material and Methods: The CCT was measured in 43 healthy young adults(86 eyes in total) by using SP, OCT and USP). Central corneal thickness, age, gender, intraocular pressure and auto refractokeratometer values obtained and used for comparison.Results: The mean age of was 21,35 ± 0,75 years. The mean CCT with USP was 558,42 ± 38,87 (477620) microns for right eye and 556,84 ± 39,83 microns for left eye. The mean CCT with SP was 555,02 ±

Vitreoretinal Cerrahide Xenon Işık Aydınlatmanın Etkileri

Amac: Calismamizda 23 gauge transkonjonktival pars plana vitrektomi teknigi ile vitreoretinal cerrahi uygulanan hastalarin, xenon isik kaynagi kullanilarak yapilan ameliyatlarinin geriye donuk olarak incelenerek ameliyat suresi, anatomik basari ve komplikasyonlarin incelenmesi amaclanmaktadir. Gerec yontem: Afyon Kocatepe Universitesi Tip Fakultesi Goz Hastaliklari Anabilim Dalinda Ocak 2010 ile Aralik 2010 tarihleri arasinda, Xenon isik kaynagi kullanilarak gerceklestirilen 23 gauge pars plana vitrektomi ameliyati yapilan 135 hastanin 135 gozu calismaya dahil edildi. Yirmi uc gauge pars plana vitrektomi teknigi ile vitreoretinal cerrahi uygulanan hastalarin kayitlari geriye donuk olarak incelenerek hastalarin yas, cinsiyet, ameliyat endikasyonlari, anestezi sekli, anatomik basari, cerrahinin suresi, gelisen komplikasyonlar, kullanilan goz ici tamponat turu arastirildi. Bulgular: Hastalarin 62’si (% 45.9) erkek, 73’u (% 54.1) kadindi. Yas ortalamasi 52.4±12.23 yil idi. Xenon isik kaynagi kullanilarak gerceklestirilen 23 gauge pars plana vitrektomi ameliyati yapilan hastalarda anatomik basari orani yuksek olup 134 hastada anatomik basari elde edilmis, yalnizca 1 gozde anatomik basari saglanamadi. Ortalama ameliyat suresi 65.56±25.78 dakika idi. Gerceklestirilen pars plana vitrektomi ameliyatlarinin 58’inde (% 43) herhangi bir retinal tamponat kullanilmayip, geri kalan ameliyatlarda kullanilan goz ici tamponatlar ise; 46 (% 34) hastada silikon, 11 (% 8.1) hastada hava, 10 (% 7.4) hastada C3F8 gazi ve 10 (% 7.4) hastada SF6 gaziydi. Xenon isik kaynagi kullanilarak gerceklestirilen 23 gauge pars plana vitrektomi ameliyati yapilan hastalarda ameliyat esnasinda gelisen komplikasyonlar 10 (% 7.4) hastada iatrojenik retinal yirtik, 1 (% 0.7) hastada koroid dekolmani ve 1 (% 0.7) hastada suprakoroidal hemoraji idi. Geriye kalan 123 (% 91) hastanin ameliyati esnasindaysa herhangi bir komplikasyon gelismedi. Hicbir hastada anesteziye bagli bir komplikasyona rastlanmadi. Sonuc: Xenon isik kaynagi, ciddi intraoperatif komplikasyonlar gelismeksizin daha kisa sureler icinde 23 gauge transkonjonktival pars plana vitrektominin yapilabilmesi icin yeterli aydinlanma ile yuksek goruntu kalitesi saglayabilir.