Taylan Ozturk

A Novel KIF11 Mutation in a Turkish Patient With Microcephaly, Lymphedema, and Chorioretinal Dysplasia from a Consanguineous Family

Microcephaly–lymphedema–chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a long philtrum with a pointed chin. Recently, mutations in KIF11 have been demonstrated to cause dominantly inherited MLCRD syndrome. Herein, we present a patient with MLCRD syndrome whose parents were first cousins. The parents are unaffected, and thus a recessive mode of inheritance for the disorder was considered likely. However, the propositus carries a novel, de novo nonsense mutation in exon 2 of KIF11. The patient also had midline cleft tongue which has not previously been described in this syndrome.

Changing trends over the last decade in the aetiology of childhood blindness: a study from a tertiary referral centre

Aims To discern treatable and preventable causes of childhood blindness by evaluating the aetiologic factors, and to compare the distribution of the most commonly affected anatomic sites of severe visual impairment (SVI) with our previous published data. Methods The charts of 11 871 patients followed between June 2002 and May 2014 were reviewed retrospectively, and 695 patients (5.9%) who had SVI or blindness in accordance with WHO criteria were enrolled. The results of ophthalmologic examinations and coexistence of any systemic disease were documented and checked against our published clinic data concerning the aetiology of childhood blindness before 2002. χ2 test was used for statistics. Results Mean age was 47.0±51.9 months (median: 24 months). Cortical visual impairment (CVI) was present in 212 cases (30.5%) and 20.3% of those had a history of premature birth. The most common anatomic sites of SVI were retina (24.6%) and crystalline lens (17.1%). When compared with our previous data, we found a significant increase in the prevalence of CVI (p=0.046) and decrease in the frequency of SVI due to uveal disorders (p<0.001). Prevalence of blindness secondary to retinopathy of prematurity reduced by a third (p=0.280), and a significant decrease in aphakia-related SVI (p=0.028) was achieved within the last decade. Conclusions The prevalence of CVI was found to be relatively increased due to the significant reduction in the frequency of preventable causes of SVI. Furthermore our clinical practice for visual rehabilitation in aphakia has resulted in a considerable decrease in SVI in the last decade.

Anterior migration of dexamethasone implant in a pseudophakic patient with intact posterior capsule

Intravitreal application of Ozurdex® (Allergan, Inc., Irvine, CA, USA) which is a biodegradable, sustained-release dexamethasone implant has been reported to be effective in the treatment of macular edema. Migration of such implant into the anterior chamber has been recently described in cases without perfect zonular or the posterior capsular integrity. Herein, we report the first case with anterior migration of Ozurdex® implant that mislocated just behind the intraocular lens (IOL) in an intact capsular bag. It is thought that such implant migrated anteriorly towards into the posterior chamber through weak zonules as the present case had a medical history of uneventful phacoemulsification surgery with the implantation of posterior chamber IOL. However, the migrated implant was well tolerated since there was no sign of the corneal complication, rise in intraocular pressure, and anterior chamber reaction. Close follow-up was scheduled to find out any signs of anterior segment pathology. Meanwhile dexamethasone implant completely degraded at the 4th month of postoperative follow-up.

Retinal Nerve Fiber Layer Alterations After Photocoagulation: A Prospective Spectral-Domain OCT Study.

Purpose : To evaluate the effect of panretinal photocoagulation (PRP) on retinal nerve fiber layer thickness (RNFLT) in treatment-naive patients with proliferative diabetic retinopathy (PDR). Methods : Fifty eight previously untreated eyes of 30 patients with PDR who underwent PRP treatment were enrolled prospectively. All patients had at least six months of follow-up. Detailed ophthalmologic examinations including macular thickness and RNFLT assessments with spectral-domain type optic coherence tomography were performed at baseline as well as the third and sixth posttreatment months. Initial RNFLT and macular thickness of laser administered patients were compared with two separate control groups that were consisted of either nondiabetic patients or diabetics without PDR. Results : The mean age of study patients was 52.4±7.1 years (Range, 32-66 years) and 16 of them (53.3%) were female. At the sixth post-PRP month, visual stabilization or improvement was achieved in 54 eyes (93.1%). No significant difference was demonstrated in initial RNFLT measurements between the study patients and two control groups (p=0.478). Mean RNFLT was measured as 108.5±17.5µm, 115.8±17.6µm, and 103.0±16.4µm at baseline, third and sixth months of the follow-up, respectively. Although RNFLT increase noted at the third post-laser month was statistically significant compared to its baseline values (p<0.001), there was a significant reduction in RNFLT at the sixth post-laser month compared to its baseline values (p<0.001). Conclusion : RNFLT increase in the third month of follow-up may be related to ensuing axonal edema. Significant RNLFT decrease at the sixth month of follow-up may be attributed to axonal loss secondary to the laser treatment.

Fundus fluorescein angiographic findings in patients who underwent ventricular assist device implantation.

Disruption of microcirculation in various tissues as a result of deformed blood rheology due to ventricular assist device (VAD) implantation causes novel arteriovenous malformations. Capillary disturbances and related vascular leakage in the retina and choroidea may also be seen in patients supported by VADs. We aimed to evaluate retinal vasculature deteriorations after VAD implantation. The charts of 17 patients who underwent VAD implantation surgery for the treatment of end-stage heart failure were retrospectively reviewed. Eight cases (47.1%) underwent pulsatile pump implantation (Berlin Heart EXCOR, Berlin Heart Mediprodukt GmbH, Berlin, Germany); however, nine cases (52.9%) had continuous-flow pump using centrifugal design (HeartWare, HeartWare Inc., Miramar, FL, USA). Study participants were selected among the patients who had survived with a VAD for at least 6 months, and results of detailed ophthalmologic examinations including optic coherence tomography (OCT) and fundus fluorescein angiography (FA) were documented. All of the 17 patients were male, with a mean age of 48.5 ± 14.8 years (15-67 years). Detailed ophthalmologic examinations including the evaluation of retinal vascular deteriorations via FA were performed at a mean of 11.8 ± 3.7 months of follow-up (6-18 months). Mean best-corrected visual acuity and intraocular pressure were found as logMAR 0.02 ± 0.08 and 14.6 ± 1.9 mm Hg, respectively in the study population. Dilated fundoscopy revealed severe focal arteriolar narrowing in two patients (11.8%), and arteriovenous crossing changes in four patients (23.5%); however, no pathological alteration was present in macular OCT scans. In patients with continuous-flow blood pumps, mean arm-retina circulation time (ARCT) and arteriovenous transit time (AVTT) were found to be 16.8 ± 3.0 and 12.4 ± 6.2 s, respectively; whereas those with pulsatile-flow blood pumps were found to be 17.4 ± 3.6 and 14.0 ± 2.1 s in patients (P=0.526 and P=0.356, respectively). FA also revealed a tendency for increased frequency of dye leakage from the optic disc in our study population. Except for remarkable delays in both ARCT and AVTT as well as a tendency for increased frequency of dye leakage from the optic disc, ophthalmologic evaluations revealed no other significant pathology or vascular deterioration in the retina that could be attributed to artificial heart systems.

Rarebit perimetry in the evaluation of visual field defects in idiopathic intracranial hypertension

PURPOSE Rarebit perimetry (RBP) is a new perimetric technique that has been reported as a sensitive test for the evaluation of the neural structure of the visual system. The aim of this study was to compare RBP with standard automated perimetry in detecting the visual field defects of patients with idiopathic intracranial hypertension (IIH). METHODS Twenty-five patients with IIH and 16 healthy controls were considered. Visual fields were analyzed with Marco automated static perimeter with threshold and central 30-2 programs (MP 30-2) and rarebit perimetry. A visual field was classified into 3 zones for both tests as central, paracentral, and peripheral zones. Mean sensitivity (MS) recorded by the MP 30-2 was compared with the mean hit rate (MHR) recorded by RBP for each zone. RESULTS MS recorded by MP 30-2 and MHR recorded by RBP for each zone were significantly lower in the IIH group than in healthy control eyes (p < 0.001). Good correlation was present between the visual fields recorded by both tests. Although the sensitivity and specificity values for each zone were lower in the RBP group than the MP 30-2 group, RBP was found to be efficient to differentiate between the visual fields of normal and IIH-affected eyes. The average RBP test duration was significantly shorter than the MP 30-2 test duration (p < 0.001). CONCLUSIONS. RBP is a rapid, comfortable, and widely accessible perimetric test giving reliable results in detecting visual field defects in IIH.

Reversal of optic neuropathy secondary to voluntary globe luxation

Luxation of the globe is rare in the general population and may be spontaneous, voluntary, or traumatic. Spontaneous or voluntary globe luxation results from shallow orbit, floppy eyelids, lax orbital ligaments, backward displacement of orbital septum, or proptotic eyes due to orbital tumors or infiltrative processes, as in Graves ophthalmopathy. The authors report a case with unilateral voluntary globe luxation presented with unilateral progressive visual loss.

Evaluation of maternal attachment, self-efficacy, levels of depression, and anxiety in mothers who have babies diagnosed with retinopathy of prematurity

ABSTRACT Purpose: The aim of this study is to evaluate the emotional stress and its effects on parental self-efficacy and mother–infant attachment in mothers whose babies were diagnosed with retinopathy of prematurity (ROP). Methods: Study sample was consisted of voluntarily participating 82 mothers whose babies were first diagnosed with ROP, 83 mothers of preterm babies without ROP, and 85 mothers of term babies admitting for their routine visits. Sociodemographic data form maternal attachment scale, state-trait anxiety inventory, Edinburgh postnatal depression scale, and parental self-efficacy scale were applied to study participants, and the overall results of three groups were statistically compared. Results: The sociodemographic features of three study groups were similar. Statistical significant differences were found in depression and state anxiety levels among study groups, while maternal attachment scale and trait anxiety level scores and parental self-efficacy scale total score were similar in study groups. Maternal depression and state-anxiety levels were tend to be higher in mother of children diagnosed with ROP and prematurity; however, there were no statistically significant differences between levels of mothers’ of premature children with or without ROP. Conclusion: This is the first study in literature assessing the additional effect of ROP on the anxiety and depression levels of recent mothers, as well as mother–infant attachment and parental self-efficacy. Supporting of mothers having an infant with diagnosed ROP is crucial because of feeling themselves inefficient and responsible for all interventions applied to their babies.

Preferred Retinal Locus Locations In Age-related Macular Degeneration

Purpose: An evaluation of the preferred retinal locus (PRL) in patients with age-related macular degeneration and a central scotoma is becoming a standard of care in the practice of low-vision rehabilitation. This is a retrospective study of PRL specifications and whether they have a correlation with the best-corrected visual acuities of patients with age-related macular degeneration. Methods: Seventy-two patients with macular degeneration (144 eyes) were included in the study. The PRLs were evaluated monocularly with a scanning laser ophthalmoscope. Each PRLs location, the fovea-PRL distance, the PRL edge of the lesion distance, and PRL stability were measured with the built-in caliper of the ophthalmoscope. Results: The most frequent location of a PRL was nasal (29.2%). The PRL was located in the left visual field of 34.0% of the patients. The best-corrected visual acuity values were positively correlated with the lesions vertical and horizontal dimensions, as well as its surface area, the PRL-fovea distance, the PRL border of the lesion distance, and PRL stability. Conclusion: The clinical PRL evaluation methodology that we describe can be used to facilitate making decisions on how to provide best visual rehabilitation to patients with a central scotoma.

Evaluation of Macular Perfusion in Healthy Smokers by Using Optical Coherence Tomography Angiography

BACKGROUND AND OBJECTIVE To investigate the macular perfusion changes in healthy smokers by using optical coherence tomography angiography (OCTA). PATIENTS AND METHODS OCTA measurements were taken for the right eyes of 40 smokers (Group 1) and age- and sex-matched control cases (Group 2). Group 1 underwent OCTA scanning with the XR Avanti AngioVue OCTA (Optovue, Fremont, CA) at baseline and at 5 minutes, 30 minutes, and 60 minutes after one standard cigarette smoking. The same scanning protocol was applied without smoking in Group 2. Macular vessel area density, flow index of the choriocapillaris, foveal avascular zone (FAZ), and central macular thickness were evaluated in both groups. RESULTS Group 1 consisted of 28 men and 12 women with a mean age of 41.2 years ± 9.1 years (range: 24 years to 63 years). The mean age of Group 2 was 42.6 years ± 8.4 years (range: 21 years to 65 years), which consisted of 28 men and 12 women. The mean baseline vessel area density, flow index of the choriocapillaris, FAZ, and central macular thickness showed no statistically significant differences between Groups 1 and 2. Although the flow index of choriocapillaris values were similar at the repetitive OCTA measurements in the control group (P > .05), it was decreased from 1.94 ± 0.06 to 1.89 ± 0.08, 1.90 ± 0.08, and 1.91 ± 0.07 at 5 minutes, 30 minutes, and 60 minutes following smoking, respectively, in Group 1 (P < .001). CONCLUSION Smoking causes a significant decrease in the blood flow index of the choriocapillary area by the acute effects of nicotine and other chemical substances in cigarettes on peripheral vascular structure, as evaluated by OCTA. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:617-622.].