Accelerated Corneal Cross-linking as an Adjunct Therapy in the Management of Presumed Bacterial Keratitis: A Cohort Study.

PURPOSE: To compare the outcomes of accelerated photoactivated chromophore for keratitis corneal cross-linking (PACK-CXL) as an adjunct treatment for bacterial keratitis (PACK-CXL plus standard antibiotic therapy) for patients receiving only standard antibiotic therapy. METHODS: Retrospective cohort study of outcomes of patients with moderate infectious presumed bacterial keratitis (ulcer diameter 2 to 7 mm and stromal depth < 300 µm) were compared before and after initiation of a new treatment protocol of PACK-CXL in addition to standard antibiotic treatment. RESULTS: A total of 70 eyes of 70 patients were included: 39 eyes in the PACK-CXL plus antibiotic (PACK-ABX) group and 31 eyes in the antibiotic only (ABX) control group. The PACK-ABX group showed shorter times to complete reepithelialization (9.3 ± 6.0 vs 16.0 ± 12.7 days, P = .01) and did not require tectonic emergency keratoplasty (0% versus 19.4%, P = .006). The PACK-ABX group also showed a higher percentage of eyes with complete reepithelialization in 6 days or less (46.2% vs 6.5%, P < .001) and a trend for shorter hospitalizations (6.3 ± 5.0 vs 8.5 ± 4.5 days, P = .06). A multivariate analysis controlling for age showed that PACK-ABX treatment remained significantly associated with early ulcer reepithelialization (odds ratio = 0.09, 95% confidence interval = 0.02 to 0.48, P = .005). CONCLUSIONS: This study validates previous findings regarding the use of accelerated PACK-CXL in the treatment of bacterial keratitis. Adding PACK-CXL improved clinical outcomes (reducing healing time) when compared to antibiotics alone. [J Refract Surg. 2020;36(4):258-264.].

Intravitreal bevacizumab treatment for neovascular age-related macular degeneration and thromboembolic events.

BACKGROUND: Systemic complications of intravitreal anti-vascular endothelial growth factor agents are relatively uncommon but highly significant. OBJECTIVES: Primary objective: To assess the risk for thromboembolic events following intravitreal bevacizumab injection in neovascular age-related macular degeneration patients by a large population-based study. Secondary objective: To analyze the association between injection frequency and the risk for thromboembolic events, the time interval between the injection and the thromboembolic events, and the influence of chronic diseases on complications rate. DESIGN: A retrospective cohort study. METHODS: Consecutive neovascular age-related macular degeneration patients receiving intravitreal bevacizumab at Soroka University Medical Center from December 2005 to December 2013 were included. Thromboembolic events analyzed included acute coronary syndrome, acute myocardial infarction, stroke, deep vein thrombosis, and pulmonary embolism. The thromboembolic event rate was compared 2 years prior and 2 years after the initial intravitreal bevacizumab injection. RESULTS: A total of 2102 patients were included. Acute coronary syndrome and stroke rate were higher 2 years after intravitreal bevacizumab (p = 0.03 and p = 0.01, respectively). No statistical significant difference was found for the rest of thromboembolic events. Patients older than 80 years and patients receiving less than six intravitreal bevacizumab injections were more likely to experience stroke. Patients with known cardiovascular risk factors before starting injections did not develop significant more thromboembolic events. CONCLUSION: In our study population, patients treated with intravitreal bevacizumab were significantly more likely to experience stroke during 2 years after first injection.

Intraocular lens implantation as an isolated risk factor for secondary glaucoma in pediatric patients.

OBJECTIVE: To evaluate the effect of intraocular lens (IOL) implantation on the development of secondary glaucoma after cataract surgery in pediatric patients. DESIGN: Retrospective case series study. METHODS: This study reviewed the medical records of children under 16 years of age who had undergone cataract surgery from 1996 to 2016 for congenital or developmental cataract. In every child an IOL was implanted in the primary surgery. Data collected included demographic information, age at cataract diagnosis and at surgery, surgical procedure, and postoperative follow-up of refraction, cup-to-disc ratio (C/D), intraocular pressure (IOP), and associated systemic and ocular anomalies. Patients with risk factors for glaucoma were excluded from the study. RESULTS: Of the 255 children below age 16 years who underwent cataract extraction surgery with primary IOL implantation, 73 (124 eyes) met the inclusion criteria. Follow-up ranged from 4 to 18 years. Only 1 patient (0.8% of the 124 eyes) developed glaucoma in 1 of his 2 operated eyes; the surgeries were performed at 10 months, 1 week apart, and glaucoma was diagnosed 4 months later. One patient had suspected glaucoma in both eyes (incidence of 1.6%). Both these children were of Bedouin origin. CONCLUSION: IOL implantation, by itself, is not a risk factor for development of secondary glaucoma after cataract surgery in a population below 16 years of age.

Corneal Cross-linking in Thin Corneas: 1-Year Results of Accelerated Contact Lens-Assisted Treatment of Keratoconus.

PURPOSE: To evaluate the safety and efficacy of accelerated contact lens-assisted cross-linking (A-CACXL) for patients with keratoconus and thin corneas. METHODS: This retrospective study included consecutive patients undergoing A-CACXL for progressive keratoconus from 2015 to 2017. Patients with a minimum corneal thickness of 400 µm or less after epithelium removal who underwent A-CACXL (9 mW/cm2 for 10 minutes, using iso-osmolar 0.1% riboflavin solution and a 90-µm thick, daily disposable bandage soft contact lens) with a follow-up time of 12 months or more were included. The main outcome measures were uncorrected (UDVA) and corrected (CDVA) distance visual acuity and minimum corneal thickness at the last visit. Progression (increase) and flattening (decrease) were defined as a change of 1.00 diopters (D) or greater in maximum keratometry or 1.50 D or greater in mean keratometry. RESULTS: Overall, 24 eyes of 24 patients were included with a follow-up time of 18.2 ± 6.3 months and a mean minimum corneal thickness, after epithelial debridement, of 353.13 µm. There was a significant improvement in UDVA (P = .009), maximum keratometry (P = .03), anterior steep keratometry (P = .04), anterior astigmatism (P = .02), and posterior astigmatism (P = .04) with no significant change in minimum corneal thickness (P = .11). There was a significant improvement in UDVA (0.90 ± 0.63 to 0.64 ± 0.47 logMAR, P = .009), maximum keratometry (61.20 ± 6.30 to 59.90 ± 5.70 D, P = .03), anterior steep keratometry (55.10 ± 3.90 to 54.50 ± 4.10 D, P = .04), anterior astigmatism (5.50 ± 2.40 to 4.60 ± 2.10 D, P = .02), and posterior astigmatism (0.90 ± 0.40 to 0.80 ± 0.40 D, P = .04) with no significant change in minimum corneal thickness (from 399.8 ± 30.7 to 391.0 ± 43.8 µm, P = .11). Flattening occurred in 45.8% (n = 11) and progression in 20.8% (n = 5). There were no serious adverse events. Persistent clinically significant stromal haze occurred in one case and completely resolved by 6 months. There was no significant change in endothelial cell density (P = .10). CONCLUSIONS: In patients with keratoconus and thin corneas, A-CACXL halted keratoconus progression in 80%, led to flattening in 45%, and significantly improved UDVA and keratometry values without any evidence of damage to the corneal endothelium or permanent adverse events. [J Refract Surg. 2019;35(10):642-648.].

[PREVALENCE OF ASTIGMATISM BEFORE ROUTINE CATARACT SURGERY: COMPARISON BETWEEN BEDOUIN AND JEWISH POPULATION IN SOUTHERN ISRAEL].

OBJECTIVES: To assess the prevalence of corneal astigmatism among patients before routine cataract surgery and overall ocular difference between Jewish and Bedouin population in the south of Israel. METHODS: Retrospective research collecting biometric information from IOLMaster (Carl Zeiss Meditec AG, Germany) in patients attending cataract surgery at Soroka University Medical Center, Beer-Sheva, Israel between the years 2015 -2016. RESULTS: Mean corneal astigmatism among all cohorts was 1.20D ± 0.83, with 1.26D ± 0.84 in Bedouins patients vs 1.17D ± 0.82 in Jews patients (p-value=0.08). Corneal astigmatism lower than 0.5D was seen in 20% of the population, 28% of the population had corneal astigmatism above 1.5D and 9% showed corneal astigmatism higher than 2.5D. When comparing axial length and keratometric characteristics between the two populations, Bedouins had shorter axial length (23.41mm± 1.62 vs. 23.67mm ± 1.55, p=0.01), and flatter corneas on both axes (flat - 43.18D ± 1.76 vs. 43.62D ± 1.79, p<0.01); (steep - 44.44D ± 1.84 vs. 44.77D± 1.89, p<0.01). Higher astigmatism was found in men than in women (1.24D vs.1.15D p- value=0.04) of study group. CONCLUSIONS: In our study we found more than 25% of patients had astigmatism more than 1.5D. Patients attending cataract surgery may therefore benefit the use of advanced IOL types and surgical techniques. In addition, a statistically significant difference between the Bedouin and Jewish populations biometric measurements in patients attending cataract surgery found.

Idiopathic edematous punctal stenosis with chronic epiphora: preponderance in young women.

PURPOSE: To describe a previously unreported phenomenon of idiopathic edematous punctal stenosis (IEPS) with chronic epiphora, presenting almost exclusively in young female patients. METHODS: A review of patients who presented with chronic epiphora and edematous punctal stenosis of unknown cause (IEPS) at the outpatient clinic of Soroka Medical Center between August 2011 and August 2015. Associated findings from clinical examination were recorded. RESULTS: A total of 32 patients with IEPS were documented. There were 30 female and 2 male patients. Average age at diagnosis was 37.6 ± 13.4 years, range 19-63 years, median 35 years. Temporary alleviation of symptoms was reported in subjects treated with topical steroids (43.8%), tacrolimus ointment (15.6%), and matrix metalloproteinase inhibitors (3.1%). No improvement in symptoms was reported in 37.5% of patients. Symptoms were bilateral in 78.1% of the patients. Spontaneous resolution was achieved in only 6.3% (2/32). CONCLUSIONS: IEPS accompanied by chronic epiphora has not been characterized to date. Our data show a clear predominance of females, most of them in their fertile years.

Ballistic Eye Protection: Why Are Soldiers Reluctant to Use Them?

INTRODUCTION: The Israel Defense Forces (IDF), as well as many other armies, faces major challenges in balancing the need to protect soldiers from harm while not impeding their ability to fight. Eye protections available in the IDF are underused, for reasons that are as yet unclear. In this study, we aim to gain a better understanding of the influence of eye protection currently in use in the IDF on vision. MATERIALS AND METHODS: In this cross-sectional study, subjects were assessed for best corrected visual acuity, contrast sensitivity, and binocular visual fields (Goldmann) in a crossover design (with and without eye protection). In addition, we established a comprehensive review on the subjective faults of the eye protection, both from personal experiences of soldiers who used them during their military service and from civilian volunteers who used them in a sterile laboratory setting. RESULTS: Visual acuity, contrast sensitivity and visual fields with and without the eye protection were assessed in 25 subjects. Eye protection did not cause any statistically significant change in visual acuity. However, the eye protection caused a statistically significant decrease in visual fields in all quadrants and in both isopters used. CONCLUSIONS: Significant restriction of the visual field can pose a major challenge for soldiers on the battlefield. The use of eye protection with wider lenses or no frame should be considered. Education and instruction should focus on increasing awareness among commanders and soldiers of the benefits of eye protection and fostering trust in the technology's capabilities. In parallel, it is crucial to educate soldiers about its disadvantages, and how such disadvantages can be overcome. We stipulate the findings to the standard IDF goggle and might not apply to other designs.

Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe.

Whole exome sequencing (WES) has become routine in clinical practice, especially in studies of recessive hereditary diseases in inbred consanguineous families, where homozygosity of a founder mutation is assumed. Multiple members of two consanguineous families of a single Bedouin tribe were diagnosed with apparently autosomal recessive/pseudo-dominant retinitis pigmentosa (RP). Affected individuals exhibited severe visual impairment with nyctalopia, marked constriction of visual fields, markedly reduced and delayed responses on electro-retinography (ERG) and eventual loss of central vision. Combined copy-number variant (CNV) analysis, haplotype reconstruction and WES of the kindred identified two distinct novel mutations in EYS (RP25): a p.(W1817*) nonsense mutation (identified through WES) and a large deletion encompassing 9 of the 43 exons, that was missed by WES and was identified through microarray CNV analysis. Segregation analysis of both mutations demonstrated that all affected individuals were either homozygous for one of the mutations, or compound heterozygous for both. The two mutations are predicted to cause loss of function of the encoded protein and were not present in screening of 200 ethnically-matched controls. Our findings of two distinct mutations in the same gene in a single inbred kindred, identified only through combined WES and microarray CNV analysis, highlight the limitations of either CNV or WES alone, as the heterozygous deletion had normal WES read-depth values. Moreover, they demonstrate pitfalls in homozygosity mapping for disease-causing variant identification in inbred communities.

Airsoft gun-related ocular injuries: long-term follow-up.

PURPOSE: To describe the long-term ocular effects of airsoft gun pellet injuries. METHODS: The present study extends by 7-10 years the results of a 2010 study on the acute ocular findings related to airsoft gun pellet injuries in 59 patients, wherein we found a variety of anterior and posterior segment injuries, including hyphema (66%), corneal edema (61%), corneal erosions (59%), and traumatic mydriasis (25%), as well as retinal edema in (22%), retinal hemorrhages and mild vitreous hemorrhage in (2.1%), and, in 1 patient, elevated intraocular pressure and traumatic cataract. RESULTS: Of the 59 patients in the original study, up-to-date medical records were available for 26 (44%; 20 males). The mean follow-up time was 8 years (range, 7.2-10.3 years); the mean age, 17.1 years. Persistent abnormal findings included traumatic cataract in 3 cases (11.5%) and iris dialysis in 1 case (3.8%). In all traumatic cataract cases, cataract was not present at the time of initial examination after injury. Final mean best-corrected visual acuity was 0.92 (range 0.67-1.0), logMAR 0.03 (range 0.18-0). CONCLUSIONS: While most acute airsoft gun-related ocular injuries are transient, some patients may develop significant and potentially sight-threatening ocular damage, even in the absence of significant pathologic findings at the time of the injury. Long-term follow-up on these patients is advisable.

Accelerated Corneal Cross-Linking With Photoactivated Chromophore for Moderate Therapy-Resistant Infectious Keratitis.

PURPOSE: To evaluate the effect of accelerated corneal cross-linking with photoactivated chromophore (PACK-CXL) as additional treatment for therapy-resistant infectious keratitis. METHODS: In this interventional cohort study, 20 patients (11 men and 9 women), aged 65.5 (interquartile range = 21.5-78.5) years, who were hospitalized for moderate-sized therapy-resistant bacterial corneal ulcers (11/20 microbiologically confirmed) were treated with hypoosmolar 0.1% riboflavin solution and Ultraviolet A (UVA) irradiation for 3 minutes at 30 mW/cm (5.4 J/cm) as additional therapy to standard antimicrobial treatment. RESULTS: We did not observe any adverse effects of accelerated PACK-CXL on the corneal stroma or limbus. The median ulcer size was 3.00 (2.63-4.50) mm, the median time to reepithelialization was 6.50 (5.00-18.0) days, and the mean hospitalization period was 8.5 ± 4.5 days. Tectonic keratoplasty became necessary in 1 patient (5%). CONCLUSIONS: Our results suggest that accelerated PACK-CXL may provide an antimicrobial effect similar to the 1 low-intensity, slow setting (30 minutes at 3 mW/cm) and may be used as additional treatment in moderate-sized therapy-resistant infectious keratitis.

Clinical utility of biomarkers of the hand in the diagnosis of schizophrenia.

A number of biomarkers were assessed in photos and prints of the hands of 95 patients with a variety of mental disorders to determine whether patients with schizophrenia could be distinguished from the others. Patients were recruited as consecutive admissions from an outpatient psychiatric day hospital population. Fourteen patients were diagnosed with schizophrenia/schizoaffective disorder and 81 were diagnosed with other mental disorders. A discriminant analysis yielded an overall 80% correct classification, with a sensitivity (schizophrenia patients identified correctly) of 78.6% and a specificity (non-schizophrenia patients identified correctly) of 80.2%. Significant differences were noted in the proximal interphalangeal joint, eponychium of the middle digit and fingernails. To determine biomarker frequency distribution patients with bipolar disorder were then compared to those with schizophrenia/schizoaffective disorder and then to patients with PTSD. The former yielded an overall 78.6% correct classification, with a sensitivity of 71.4% and a specificity of 85.7% and with similar biomarker frequency distribution for bipolar disorder as for the entire non schizophrenia group. The latter comparison yielded an overall 58.6% correct classification, with no significant differences between the features. The application of these biomarkers in clinical practice could constitute an additional tool for the psychiatrist in cases lacking diagnostic clarity.

Infantile cataract: comparison of two surgical approaches.

OBJECTIVE: To compare the results of 2 cataract extraction techniques with primary intraocular lens (IOL) implantation in children. DESIGN: Retrospective comparative case series study. METHODS: This study included children with congenital or developmental cataract. In all cases, anterior capsulorhexis, lens aspiration, posterior continuous curvilinear capsulorhexis, and primary IOL implantation were performed. We compared 2 surgical approaches. In the first approach, after IOL implantation in the bag, posterior optic capture (OC) was performed without anterior vitrectomy (OC technique); in the second approach, anterior vitrectomy was performed without OC of the IOL (AV technique). Patient demographic data as well as ethnic origin, child's age at cataract diagnosis, child's age at surgery, axial length, IOL power in diopters, visual acuity, visual axis opacification, and complications were assessed. RESULTS: One hundred twenty-three eyes were included for surgical approach outcomes comparison; 21 eyes underwent the OC surgical approach and 102 the AV surgical approach. The mean patient age at surgery was 57.3 ± 47.1 months. The mean follow-up was 63.13 months (range 12-202 months). Epithelial lens reproliferation was the major adverse event in our series, affecting 21.1% of patients' eyes; the mean time to epithelial lens reproliferation development was 90 ± 9.70 months. There was no statistically significant difference between the two groups in best spectacle-corrected visual acuity or epithelial lens reproliferation incidence. CONCLUSIONS: In our case series we did not find any difference between surgical techniques.

Peripheral Blunt Dissection: Using a Microhoe-Facilitated Method for Descemet Membrane Endothelial Keratoplasty Donor Tissue Preparation.

PURPOSE: To describe a modified technique for Descemet membrane donor tissue preparation that facilitates the original Melles stripping technique. METHODS: Descemet membrane is prepared using a Rootman/Goldich modified Sloane microhoe, using a blunt instrument as opposed to a sharp blade or needle and begins dissection within the trabecular meshwork. The trabecular tissue is dissected for 360 degrees, and then Descemet membrane is stripped to approximately 50%. A skin biopsy punch is then used to create fenestration in the cornea, which is used to mark an "F." on the stromal side of Descemet membrane to aid in orientation of the graft. Trephination of the membrane is then performed and stripping is completed. The tissue is stained with 0.06% trypan blue and aspirated into an injector for insertion into the anterior chamber. RESULTS: Before converting to the technique described, 5 of 75 (6.7%) tissues were wasted and 7 of 75 (9.3%) tissues with radial tears were salvaged for use. Since converting to the new technique, only 1 of 171 (0.6%) (P = 0.01) tissues was wasted and 7 of 171 (4.1%) (P = 0.2) tissues with radial tears were salvaged. CONCLUSIONS: The peripheral blunt dissection technique offers an improvement over the technique originally described by Melles et al, as the incidence of tissue wastage and tears is lower, it is easy to learn, has low stress, and is reproducible. Combining this with a stromal surface letter mark ensures correct orientation of the tissue against the corneal stroma of the recipient.

Iatrogenic Horner Syndrome: Etiology, Diagnosis and Outcomes.

BACKGROUND: The identification and prompt diagnosis of Horner syndrome (HS) is essential for preventing permanent damage. HS may arise when a lesion presents anywhere along the three-neuron oculosympathetic pathway that begins at the posterior-lateral nuclei of the hypothalamus all the way through to the orbit. We present four cases and review the literature to familiarize the reader with the identification, diagnosis and treatment of Horner syndrome. The four patients, three adults and one child, were followed for at least 6 months following the initial diagnosis (range 6-18 months). There was partial resolution in three of the four cases, while the fourth resolved completely. There are numerous causes of HS, some of them iatrogenic. While iatrogenic cases of HR are rare in both adults and children, HS is seen more often following surgical procedures. Prompt recognition of the syndrome and correction of the offending agent may prevent permanent damage to the neuronal pathway. It is therefore recommended that practitioners be aware of the risks for development of iatrogenic HS and the signs for early detection.

Assessment of intraocular pressure sensing using an implanted reflective flexible membrane.

Glaucoma is a neurodegenerative condition that is the leading cause of irreversible blindness worldwide. Elevated intraocular pressure (IOP) is the main cause for the development of the disease. The symptoms of this form, such as deterioration of vision and scotomas (loss of visual fields), appear in the latter stages of the disease. Therefore, an IOP monitoring device is needed for better, simpler, and faster diagnosis, and to enable a fast treatment response. We present a theoretical assessment as well as preliminary experimental results of a simple approach for easy, optical, IOP self-monitoring. It is based on a polydimethylsiloxane membrane coated with a reflective layer and a Hartmann­Shack wavefront sensor. Nearly linear correlation is found between membrane deformation and Zernike coefficients representing defocus primary spherical aberration, with high sensitivity and negligible dependence on the measurement distance. The proposed device is expected to provide an accurate IOP measurement resolution of less than ± 0.2 ?? mm ? Hg with a pressure dependence on working distances < 0.7 ?? mm ? Hg / cm for a thick membrane; the corresponding values for a thin membrane are ± 0.45 ?? mm ? Hg and < 0.6 ?? mm ? Hg / cm , respectively, at typical IOP values­up to 40 mm Hg.

A Novel Method for Laser Suture Lysis Using Multispot Laser System.

Although often uncomplicated, the current technique for laser suture lysis after filtration surgery requires patient cooperation and appropriate care taken by the surgeon. In cases with suboptimal cooperation, steadying the 50-µm laser aiming beam exactly over a thin 10-0 nylon suture, can be exhausting, difficult for both the patient and the surgeon; it may prove to be ineffective or even precipitate complications. We describe a novel method for laser suture lysis using a multispot laser system, which requires less patient cooperation and surgeon skills and yields excellent results.

[SPECULAR MICROSCOPY NORMATIVE DATA: DOES PATIENT AGE HAVE AN IMPACT ON CORNEAL ENDOTHELIUM FEATURES IN ELDERLY EYES?].

INTRODUCTION: Corneal endothelium is essential for adequate corneal hydration and transparency. Age and ethnicity- related variability in endothelial properties is known. OBJECTIVES: To determine specular microscopy trends in the elderly and to provide normative data of endothelial features of the sampled cohort of the Israeli population aged 55-88 years. METHODS: This is a retrospective cross-sectional study analyzing specular microscopy data of the Israeli population aged 55-88 years and the determination of correlation of age to specular microscopy features. A comparison of endothelial properties was conducted between age-based groups: 55-64 years, 65-74 years, and 75-88 years. RESULTS: One hundred and eighty eight eyes of 188 patients, mean age 71.05 ± 7.9 years, were included; Mean Cell Density 2549.53 ± 294.71 cells/mm²; Coefficient of variation (CV) 42.12 ± 6.9%; Hexagonality (Hexa) 49.15 ± 6.62%; Central Corneal thickness (CCT) 552 ± 47 µm. A weak correlation was observed between cell density and age [r = -0.169; p = 0.02); CV, Hexa, and CCT did not show any correlation with age. Group analysis did not reveal statistically significant differences between the following age groups: 55-64 years; 65-74 years; 75-88 years CONCLUSIONS: Normative data of endothelial properties of the sampled cohort of Israeli population aged 55-88 years is provided. Age has a weak correlation with cell density. DISCUSSION AND SUMMARY: Considering the aging of the population, endothelial properties do not justify the rejection of potential donors based on age alone.

[EPIDEMIOLOGY, CLINICAL CHARACTERISTICS, PROGNOSTIC FACTORS, AND VISUAL OUTCOMES IN PATIENTS WITH OPEN OCULAR INJURIES AND INTRAOCULAR FOREIGN BODIES].

AIMS: To describe and identify clinical characteristics, prognostic factors and visual outcome in patients with intraocular foreign bodies (IOFB) in southern Israel. METHODS: We conducted a retrospective review of all cases of open globe injury with IOFB treated and followed-up for at least 6 months in the Ophthalmology Department at Soroka University Medical Center, Beer Sheva, Israel, from 1995-2011. The study population was subdivided into two groups: 1. Patients whose difference in visual acuity (VA) between presentation and end of follow-up was considered "successful" (n = 54); 2. Patients whose difference in VA between presentation and end of follow-up was considered "non-successful"(n = 14). Comparing these two groups, we analyzed the following: time from trauma to admission, time from admission to operation, location of IOB, wound zone, best corrected VA at admission. RESULTS: A total of 97.1% of the study group were males and the mean age was 28.7 ± 15.3 years. Metallic IOB were found in 73.5% of cases. The IOFB penetrated at Zone 1 in 61.8% cases, and were located at the posterior segment in 65.2 % of cases. The two subgroups differed in their best corrected VA (by LogMAR) at presentation (p value = 0.02): the patients who were defined as "successful" (n = 54) had.a higher mean VA (1.2 ± 1.3) than those (n = 14) who were defined as "non-successful" (1.1 ± 0.6). The duration of time from trauma to admission was not found to be of statistical significance (p value = 0.361, and neither did the time from admission to operation (P value = 1). CONCLUSION: We present an innovative definition of VA changes during the follow-up period in patients with open globe injuries involving IOFB. Our study showed that patients who presented with worse VA had a better chance of a "successful" outcome.

Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.

BACKGROUND: Leber congenital amaurosis (LCA) is a severe retinal degenerative disease that manifests as blindness or poor vision in infancy. The purpose of this study was to clinically characterize and identify the cause of disease in a large inbred Bedouin Israeli tribe with LCA. METHODS: Thirty individuals of a single kindred, including eight affected with LCA, were recruited for this study. Patients' clinical data and electroretinography (ERG) findings were collected. Molecular analysis included homozygosity mapping with polymorphic markers and Sanger sequencing of candidate genes. RESULTS: Of the eight affected individuals of the kindred, nystagmus was documented in five subjects and keratoconus in three. Cataract was found in 5 of 16 eyes. Photopic and scotopic ERG performed in 5 patients were extinguished. All affected subjects were nearly blind, their visual acuity ranged between finger counting and uncertain light perception. Assuming autosomal recessive heredity of a founder mutation, studies using polymorphic markers excluded homozygosity of affected individuals at the genomic loci of all previously known genes associated with LCA, except GUCY2D. Sequencing of GUCY2D identified a novel missense mutation (c.2129C>T; p.Ala710Val) resulting in substitution of alanine by valine at position 710 within the protein kinase domain of the retina-specific enzyme guanylate cyclase 1 (GC1) encoded by GUCY2D. Molecular modeling implied that the mutation changes the conformation of the regulatory segment within the kinase styk-domain of GC1 and causes loss of its helical structure, likely inhibiting phosphorylation of threonine residue within this segment, which is needed to activate the catalytic domain of the protein. CONCLUSIONS: This is the first documentation of the p.Ala710Val mutation in GC1 and the second ever described mutation in its protein kinase domain. Our findings enlarge the scope of genetic variability of LCA, highlight the phenotypic heterogeneity found amongst individuals harboring an identical LCA mutation, and possibly provide hope for gene therapy in patients with this congenital blinding disease. As the Bedouin kindred studied originates from Saudi Arabia, the mutation found might be an ancient founder mutation in that large community.

Epiretinal membrane in diabetes mellitus patients screened by nonmydriatic fundus camera.

OBJECTIVE: To determine the prevalence of epiretinal membrane (ERM) in patients with type 2 diabetes mellitus (T2DM) and to assess the associated risk factors. DESIGN: Retrospective, cross sectional study. METHODS: Patients with T2DM, seen for annual follow-up between 2009 and 2010, were evaluated by digital nonmydriatic retinal photography for the detection of diabetic retinopathy. Retinal photographs were assessed by a retina specialist. RESULTS: ERM was present in 102 of 1550 patients with T2DM (6.5%). Of the participants, 1443 had sufficient documented data to conduct statistical analysis for variant risk factors. The prevalence of ERM was significantly associated with age (p < 0.001; 1.2% for <49 years, 4% for 50-59 years, 8.2% for 60-69 years, and 9.6% for >70 years), cataract surgery (p < 0.001), diabetic nephropathy (p < 0.001), and chronic renal failure (p = 0.039). Prevalence was similar for both sexes (53% females, 47% males; p = 0.33). In logistic regression models, the prevalence of ERM was significantly associated with increasing age (p = 0.018), cataract surgery (p < 0.001), and diabetic nephropathy (p = 0.011). CONCLUSIONS: The prevalence of ERM in patients with T2DM in the present study was not significantly different than that of the general population. ERM was significantly associated with age, diabetic nephropathy, and cataract surgery.