Bilinen Metabolik Hastalıklar ve Sendromlar ile İlişkilendirilemeyen Konjenital/Gelişimsel Kataraktlarda Yeni Nesil Dizileme ile Moleküler Etiyolojinin Araştırılması

Proje No: THD-2017-11983The aim of the study was to identify the molecular etiology in patients with congenital/developmental cataract which can not be attributed to known metabolic diseases or syndromes by next generation sequencing. A total of four patients (three girls and one boy) who had isolated bilateral cataract were enrolled in the study after detailed genetic and metabolic evaluation. Two patients had nuclear, one patient had total and one patient had combined lamellar and sutural cataract. All patients underwent bilateral lensectomy and anterior vitrectomy. One family had consanguinity. DNA (Deoxyribonucleic Acid) was extracted from peripheral blood of probands and selected affected individuals in the family. Whole exome sequencing (WES) was performed by IonProton® technology. The results were confirmed by Sanger sequencing. Heterozygous c.215+1G>A mutation in CRYBA1 was detected in one patient, heterozygous c.432C>G (p.Tyr144Ter) mutation in CRYGC was detected in one patient, heterozygous c.70A>C (p.Pro24Thr) mutation in CRYGD was detected in one patient and heterozygous c.466G>A (p.Gly156Arg) mutation in CRYBB3 was detected in one patient. All these mutations were also detected in selected affected individuals of the families and were located on the crystalline genes which have been previously reported to be associated with congenital cataract. The study highlights that crystalline genes should be considered in the first place when performing studies regarding the genetic etiology of the congenital cataract in our country and the implementation of WES as a useful technology in identifying the genetic basis of complex diseases such as congenital cataract. In addition, the present study has a unique property and is the first report of whole exome sequencing data in regard with congenital cataract in our country.Bu çalışmada amaç bilinen bir metabolik hastalık ve sendrom ile ilişkilendirilemeyen konjenital/gelişimsel kataraktı olan hastalarda yeni nesil dizileme ile moleküler etiyolojiyi tanımlamaktı. Çalışmaya ayrıntılı genetik ve metabolik değerlendirme sonrasında izole bilateral kataraktı olan üç kız bir erkek toplam dört hasta dahil edildi. İki hastada nükleer, bir hastada total, bir hastada ise kombine lamellar ve sütüral katarakt mevcuttu. Tüm hastalara bilateral lensektomi ve ön vitrektomi uygulandı. Bir ailede akraba evliliği mevcuttu. Hastaların ve ailedeki seçilmiş etkilenmiş bireylerin periferik kanından DNA (Deoksiribonükleik Asit) izole edildi. Tüm ekzom sekanslama (WES, Whole Exome Sequencing)) IonProton® teknolojisi ile yapıldı. Sonuçlar Sanger sekanslama ile konfirme edildi. Bir hastada CRYBA1 geninde heterozigot c.215+1G>A, bir hastada CRYGC geninde heterozigot c.432C>G (p.Tyr144Ter), bir hastada CRYGD geninde heterozigot c.70C>A (p.Pro24Thr) bir hastada ise CRYBB3 geninde heterozigot c.466G>A (p.Gly156Arg) mutasyonu saptandı. Tüm bu mutasyonlar ailenin seçilmiş etkilenmiş bireylerinde de gösterildi ve daha önce konjenital katarakt ile ilişkili olduğu bildirilmiş kristalin genleri üzerindeydi. Bu çalışma, ülkemizde konjenital kataraktın genetik etiyolojisine yönelik yapılan çalışmalarda kristalin genlerinin öncelikle düşünülmesi gerektiğini ve WES’in konjenital katarakt gibi kompleks hastalıklarda genetik temeli tanımlamakta yararlı bir teknoloji olarak kullanımını vurgulamaktadır. Ayrıca, bu çalışma benzersiz bir özelliğe sahiptir ve ülkemizde konjenital kataraktın tüm ekzom sekanslama bilgisine dair ilk bildiridir

Strabismus In Geriatric Patients: Etiology And Clinical Features

Introduction: As life expectancy is continuously increasing, health issues, such as strabismus that has a functional and psychosocial impact on the quality of life, have gained more importance and require a solution. In the present study, we aimed to describe and determine the strabismus etiology and clinical features in patients aged >= 65 years who were examined in a strabismus clinic. Materials and Method: We retrospectively examined the data of patients aged >= 65 years who were admitted to the strabismus clinic between July 2018 and July 2019. The findings of the ophthalmological and orthoptic examination as well as the strabismus etiology, intervention required, and chief complaints were all recorded. Results: We extracted the medical records of 40 patients (16 female and 24 male) aged >= 65 years who were examined in the strabismus clinic. The chief complaint was diplopia in 30 (75%) patients, followed by ocular deviation in 10 (25%) patients. The deviation was horizontal in 26 (65%) patients. The most common etiology was thyroid eye disease (6 patients; 15%), followed by diabetes (5 patients, 12.5%), hypertension (5 patients, 12.5%), trauma (3 patients, 7.5%), cerebrovascular event (3 patients, 7.5%), intracranial mass (3 patients, 7.5%), and secondary deviation (3 patients, 7.5%). Moreover, 11 (27.5%) patients underwent surgery, whereas 17 (42.5%) patients received nonsurgical treatment; 14 (35%) patients did not re-visit the strabismus clinic. Conclusion: Strabismus can be seen in elderly individuals. The underlying etiology, such as trauma and cerebrovascular events, may be life threatening and requires prompt diagnosis and treatment.WoSScopu

Prescription Errors In Ophthalmology

PubMe

Akomodatif Ezotropya: Klinik Özellikler, Tedavi Sonuçları ve Tedavinin Binokülarite Üzerine Etkisi

Objective: To evaluate clinical features and treatment results in patients who have accomodative esotropia, and to discuss the effect of refractive and/or surgical correction on the development of binocularity. Material and Methods: The clinical and demographic features of 161 patients who had the diagnosis of accomodative esotropia, and who had been followed for at least 6 months in Hacettepe University Department of Ophthalmology Pediatric Ophthalmology and Strabismus Section between 1990-2011 were reviewed. The amount of near and far esodeviations, fusion, stereopsis, surgical and refractive corrections were evaluated at the initial and final visits. Results: Eighty-five (52.79%) boys with median age of 4 years (1-24), and 76(47.20%) girls with median age of 5 years (1-16) were enrolled in the study. The median follow-up was 26 months (6-133 months). Of 161 patients, 125 (77.64%) had partial accomodative, and 36 (22.36%) had full accomodative esotropia. Fifty-five patients (34,16 %) underwent surgery during follow-up. The recession of bilateral medial recti was the most common surgical procedure (30 patients, 54.54%), followed by unilateral recession-resection procedure (23 patients, 41.81%). The amount of hyperopia, and near and far esodeviations measured at the final visit were statistically lower compared to initial visit (p<0.05). Forty-two patients (26.08%) had fusion, 57 (35.41%) patients had stereopsis in different levels at the final visit. Conclusion: Appropriate measurement of refractive errors and full correction of hyperopia are essential for the treatment of accomodative esotropia. The refractive and surgical correction was found to have similar effect on the development of binocularity on long term follow-up.WoSScopu

Behcet's Disease: The Clinical and Demographic Characteristics of 406 Patients

14th International Congress on Behcet's Disease -- JUL 07-10, 2010 -- London, ENGLANDWOS: 000306729900006Objectives: In this study, we aim to describe and investigate the demographic and clinical features, prognostic factors, ocular, and systemic manifestations of the patients with Behcet's Disease. Patients and methods: The study included 406 patients (306 males, 100 females; 36.1 years; range 12 to 76 years) who met the classification criteria of the International Study Group for Behcet's Disease. The clinical and demographic characteristics including age at onset, sex, type of ocular involvement, visual acuity, systemic manifestations, and initial signs, and treatment modalities were reviewed. Results: The mean age at onset was 27.6 +/- 7.2 years in male patients and 29.0 +/- 9.3 years in females. There were no significant differences between both sex in terms of the frequency of ocular involvement (68.9% in male, 65.0% in female, p=0.163) and bilaterality of the ocular involvement (56.2% in male and 53.0% in female, p=0.67). The most common initial presenting manifestation of the disease was oral aphthous ulcer which was seen in 71.9% of the patients, followed by ocular involvement (23.4%). The leading clinical features were oral aphthous ulcers (100%), followed by genital ulcers (82.8%) and ocular manifestations (80.3%). HLA-B51 was positive in 170 of 372 patients (45.7%). HLA-B51 positivity had no effect on the frequency and severity of the ocular inflammatory episodes. Of 306 males, 141 (46.1%) and of 100 females 29 (29.0%) had severe ocular episodes, while 34.6% (n=106) of males and 21% (n=21) of females had frequent ocular involvement. Males had more frequent (p=0.03) and more serious (p=0.015) ocular inflammatory episodes than females. Cyclosporine A was the most commonly preferred agent for patients with frequent episodes (24.3%; p=0.019). Conclusion: Ocular involvement in Behcet's disease is significantly more frequent and severe in men. The main prognostic criteria affecting the visual acuity are the severity and frequency of ocular involvement

BEHCET'S DISEASE IN SOUTHERN TURKEY: CLINICAL AND DEMOGRAPHIC CHARACTERISTICS OF 406 PATIENTS

WOS: 000282865900153

Why And When To Prefer Botulinum Toxin Injection In Childhood Strabismus?

The aim of this study was to investigate the indications and outcomes of botulinum toxin injection in children with strabismus. The medical records of children who underwent botulinum toxin injection were reviewed. Eighteen patients (13 boys, 5 girls) with a mean age of 9.08 +/- 5.93 (6 months to 17 years) years were enrolled in the study. The main indication and diagnosis, initial and final deviation at primary position and the presence of abnormal head position were all evaluated. The most common diagnosis was sixth nerve palsy (7 patients) followed by Duane's syndrome (4 patients), acquired esotropia (2 patients), acquired exotropia (2 patients), consecutive exotropia (2 patients) and sensory strabismus (1 patient). The leading indications for botulinum toxin injections were the presence of abnormal head position, diplopia and ocular misalignment at primary position. All patients received monocular injection. Fourteen patients had one, 4 patients had more than one injection. The mean follow-up period was 2.78 +/- 0.94 months for the first post-injection visit and 21.64 +/- 15.23 months for the last visit. Five patients underwent strabismus surgery due to inadequate response to injection. No complication related to injection was observed. Botulinum toxin injection may be preferred in pediatric age group particularly in case of extraocular muscle palsy, diplopia and concomitant deviation either to provide ocular alignment prior to surgery or to prevent the detrimental effect of diplopia on binocularity. The intervention seems to be safe and repeatable in children even though surgery is still inevitable in particular cases.Wo

Umbilical Cord Blood Serum Therapy For The Management Of Persistent Corneal Epithelial Defects

AIM: To evaluate the role of umbilical cord blood serum (CBS) therapy in cases with persistent corneal epithelial defects (PED). METHODS: Sixteen eyes of 14 patients with PED who were resistant to conventional treatment were treated with 20% umbilical cord serum eye drops. Patients were followed -up weekly until epithelization was complete. The collected data included the grade of corneal lesion (Grade I: epithelial defect +superficial vascularization, Grade II: epithelial defect +stromal edema, Grade Ill: corneal ulcer +stromal melting), the size of epithelial defect (pretreatment, 7th, 14th and 21st days of treatment), and follow-up time was evaluated retrospectively. RESULTS: The mean size of epithelial defect on two perpendicular axes was 5.2x4.6-mm(2) (range: 2.5-8 mmx 2.2-9 mm(2)). Mean duration of treatment was 8.3 +/- 5wk. CBS therapy was effective in 12 eyes (75%) and ineffective in 4 eyes (25%). The epithelial defects in 4 ineffective eyes were healed with amniotic membrane transplantation and tarsorrhaphy. The rate of complete healing was 12.5% by 7d, 25% by 14d, and 75% by 21d. The healing time was prolonged in Grade Ill eyes in comparison to eyes in Grade I or Grade II. CONCLUSION: The results of the current study indicated the safety effectiveness of CBS drops in the management of PED. The grade of disease seems have a role on the healing time.Wo

Normative Values For Optical Coherence Tomography Parameters In Healthy Children And Interexaminer Agreement For Choroidal Thickness Measurements

Purpose: To (a) determine the normative values for optical coherence tomography (OCT) parameters such as central macular thickness, retinal nerve fiber layer thickness, and choroidal thickness in healthy children; (b) investigate the relationships of these parameters with axial length, central corneal thickness, refractive errors, and intraocular pressure; and (c) determine interexaminer agreement for choroidal thickness measurements. Methods: In this cross-sectional study, 120 healthy children aged 8-15 years underwent detailed ophthalmological examination and OCT measurements. Choroidal thickness was measured at three separate locations by two independent examiners. Results: The mean global retinal nerve fiber layer thickness was 98.75 +/- 9.45 mu m (79.0-121.0). The mean central macular thickness was 232.29 +/- 29.37 mu m (190.0-376.0). The mean subfoveal choroidal thickness obtained by examiner 1 was 344.38 +/- 68.83 mu m and that obtained by examiner 2 was 344.04 +/- 68.92 mu m. Intere-xaminer agreement was between 99.6%-99.8% for choroidal thickness at three separate locations. Central macular thickness increased with axial length (r=0.245, p=0.007). Choroidal thickness increased with age (r=0.291, p=0.001) and decreased with axial length (r=-0.191, p=0.037). Global retinal nerve fiber layer thickness decreased with axial length (r=-0.247, p=0.007) and increased with central corneal thickness (r=0.208, p=0.022). Global retinal nerve fiber layer thickness positively correlated with choroidal thickness (r=0.354, p < 0.001). Global retinal nerve fiber layer thickness (r=0.223, p=0.014) and choroidal thickness (r=0.272, p=0.003) increased with the spherical equivalent (D). Conclusions: Optical coherence tomography parameters showed a wide range of variability in children. Retinal nerve fiber layer thickness, central macular thickness, and choroidal thickness were found to be either inter-related or correlated with age, central corneal thickness, axial length, and refractive errors. Furthermore, manual measurements of choroidal thickness showed high interexaminer agreement. Because normative values for optical coherence tomography parameters differed in children, the measurements should be interpreted according to an age-appropriate database.WoSScopu