45 research outputs found
Bilinen Metabolik Hastalıklar ve Sendromlar ile İlişkilendirilemeyen Konjenital/Gelişimsel Kataraktlarda Yeni Nesil Dizileme ile Moleküler Etiyolojinin Araştırılması
No full textProje 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
No full textIntroduction: 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
Ocular Inflammation and Depression: Ophthalmologists’ Perspective
No full text
Inflammation may act throughout all the systems in the body including the brain and contribute
to many pathological processes. This mini-review starts with a brief overview of the literature in respect
with the relation between ocular inflammation and depression. In addition, the discussion is mainly
condensed on relevant studies about two ocular diseases: uveitis and dry eye. With this review, we aim
to summarize the current evidence, potential mechanisms and to provide a clinical point of view to patients
with ocular inflammatory diseases who may also be prone to concurrent depression and depressive
symptoms.
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Göz Tembelliği Tedavisinde Dikoptik Uyarım Temelli Binoküler Yaklaşımlar
No full textGöz tembelliğinin ortaya çıkmasında binoküler işlev bozukluğunun kritik bir rol oynayabileceğinin keşfi, kontrast farkını dengeleyen her iki gözün eş zamanlı uyarım koşullarına dayanan yeni bir dikoptik uyarım yaklaşımının geliştirilmesine yol açmıştır. Bu yaklaşım, göz tembelliği tedavisinde her iki gözün birlikte çalışmasını sağlayarak göz tembelliğinin tedavisini mümkün kılmaktadır. Dikoptik tedavi yaklaşımları, göz tembelliğinde binoküler ve monoküler kayıplarda binoküler dengesizliğin önemli bir rol oynayabileceğini kabul ederken, binoküler işlev kapasitesinin korunması gerektiğini savunan bir teorik temele dayanmaktadır. Bu nedenle, bu yaklaşımlar gözlerin birlikte çalışmasını sağlamak, derinlik algısını geliştirmek ve binoküler tek görmeyi iyileştirmek amacıyla tasarlanmıştır. Bu derleme, göz tembelliği tedavisinde binoküler işlevi iyileştirmeyi hedefleyen dikoptik uyarım tekniklerinin mevcut literatürünü sistematik bir şekilde incelemekte ve sentezlemektedir. Literatürdeki çeşitli çalışmalara dayanarak, bu tedavi yöntemlerinin temel ilkeleri açıklanmış ve geleneksel monoküler tedavi yöntemleriyle karşılaştırıldığında elde edilen sonuçlar vurgulanmıştır. Dikoptik tedavi tekniklerinin klinik etkinliği, göz tembelliği tedavisinde binoküler işlevin iyileştirilmesine olan katkıları doğrultusunda değerlendirilmiştir. Ayrıca, bu tedavi yaklaşımlarının farklı hasta gruplarındaki uygulama sonuçları, tedavi süreleri, etkinlik düzeyleri ve olası yan etkiler hakkında da bilgiler sunulmuştur. Derleme, dikoptik tedavi yaklaşımlarının klinik uygulamalara entegrasyonuna yönelik kapsamlı bir değerlendirme sunarak, bu yöntemlerin avantaj ve dezavantajlı yönlerine de dikkat çekmekte ve gelecekteki kullanımına dair yol gösterici bir bakış açısı geliştirmeyi amaçlamaktadır.The discovery that binocular dysfunction may play a critical role in the development of amblyopia has led to the development of a novel approach based on contrast-rebalanced binocular stimulation of both eyes. This approach, known as dichoptic stimulation, enables the treatment of amblyopia by facilitating the cooperation of both eyes. Dichoptic treatment approaches are founded on the theoretical premise that binocular imbalance plays a significant role in both monocular and binocular impairments in amblyopia, and that preserving binocular function capacity is essential. Therefore, these approaches are designed to promote the collaborative functioning of the eyes, enhance stereopsis, and improve binocular fusion. This review systematically examines and synthesizes the existing literature on dichoptic stimulation techniques aimed at improving binocular function in the treatment of amblyopia. Based on various studies in the literature, the fundamental principles of these treatment methods are outlined, and the results obtained in comparison to traditional monocular treatments are highlighted. The clinical efficacy of dichoptic treatment methods is evaluated in terms of their contribution to enhancing binocular function in amblyopia. Additionally, information is provided regarding the outcomes, treatment durations, efficacy levels, and potential side effects of these treatment approaches in different patient groups. This review offers a comprehensive assessment of the integration of dichoptic treatment approaches into clinical practice, highlighting both their advantages and disadvantages, and aims to provide a guiding perspective on their future use
Strabismus surgery in congenital fibrosis of the extraocular muscles: a paradigm.
No full textBackground: Congenital fibrosis of extraocular muscles (CFEOM) is a rare group of disorders with variable phenotypes that result from aberrant innervation to the EOMs leading to synergistic vertical and/or horizontal deviations. We report our experience with the surgical management of patients with CFEOM
Umbilical cord blood serum therapy for the management of persistent corneal epithelial defects
No full textAIM: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 III: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 5.2×4.6-mm2 (range:2.5-8×2.2-9 mm2). 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 III 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
Akomodatif Ezotropya: Klinik Özellikler, Tedavi Sonuçları ve Tedavinin Binokülarite Üzerine Etkisi
No full textObjective: 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
