Durrani O.,University of Birmingham |
Banahan K.,Trinity College Dublin |
Sheedy F.J.,Trinity College Dublin |
McBride L.,King's College London |
And 10 more authors.
Rheumatology | Year: 2011
Objectives: The initiating cause of Behç et's disease (BD) is unknown, but an aberrant response to infection has been suggested. In this study, single nucleotide polymorphisms in Toll-like receptors (TLRs) and associated molecules that have a sentinel function at mucosal surfaces were analysed in patients with BD. Methods: TLR expression was determined by immunohistochemistry in buccal mucosal tissue from patients with BD, in tissue from patients with lichen planus (LP) or pyogenic granuloma (PG) as disease controls, or from healthy individuals. Using SSP-PCR we analysed SNP in CD14, TLR2, TLR4 and TIRAP (TIR domain-containing adaptor protein) in patients with BD from different geographical regions. Results: TLR expression was increased in buccal lesions from patients with BD compared with healthy controls; however, a similar increase was seen in lesion tissue from patients with LP or PG, suggesting that this was a generalized inflammatory response as opposed to a BD-specific response. SNP analysis showed no association between CD14, TLR2 or TLR4 polymorphisms. However, TIRAP 180Leu was significantly associated with BD in UK, but not Middle Eastern, patients. Conclusion: TLR expression showed no difference in tissue from patients with BD compared with either disease or healthy controls. Likewise, SNPs in TLR genes were no different from healthy controls. The association with the increased function variant of TIRAP suggests that encounter with a pathogen at mucosal sites will lead to increased cytokine production and tissue damage with persistence of mucosal lesions. © The Author 2011. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved.
Nasser O.,Hadassah University Hospital |
Greiner K.,St John Eye Hospital |
Amer R.,Hadassah University Hospital
European Journal of Ophthalmology | Year: 2010
PURPOSE. Parry-Romberg syndrome (PRS) is a rare disease of unknown etiology and pathogenesis, characterized by progressive hemifacial atrophy. Diverse ocular manifestations were reported in association with PRS, including enophthalmos, lid retraction, blepharoptosis, restrictive strabismus, ocular motor nerve dysfunction, Horner syndrome, reduced corneal sensitivity, band keratopathy, episcleritis, uveitis, neuroretinitis, and retinal vasculitis. METHODS. Descriptive case report. results. We report on the development of unilateral optic atrophy followed by ipsilateral Coats disease (CD) in a girl with PRS. Visual outcome was limited owing to the development of massive subretinal exudation and shallow retinal detachment in the posterior pole and inferior retina. CONCLUSIONS. Optic atrophy was not previously described in association with PRS. We describe the development of unilateral optic atrophy with subsequent CD, 5 years later, in a girl with PRS. © 2010 Wichtig Editore.
Chiang F.,St John Eye Hospital |
Kuper H.,London School of Hygiene and Tropical Medicine |
Lindfield R.,London School of Hygiene and Tropical Medicine |
Keenan T.,Manchester Royal Eye Hospital |
And 6 more authors.
PLoS ONE | Year: 2010
Background: There are no recent data on the prevalence and causes of blindness in the Occupied Palestinian Territories. The aim of our study was to estimate the prevalence and causes of blindness and visual impairment in the population aged 50 years and above in the Occupied Palestinian Territories using the Rapid Assessment of Avoidable Blindness (RAAB) survey method. Methods and Findings: Clusters of 40 people who were 50 years and above were selected with probability proportionate to size using a multistage cluster random sampling method. Participants received a comprehensive ophthalmic examination in their homes, including visual acuity testing by one of three experienced ophthalmologists. The principal cause for visual loss was determined by an experienced ophthalmologist using portable diagnostic instruments. Information about previous cataract surgery, satisfaction with surgery and barriers to cataract surgery were collected. The prevalence of self-reported diabetes was also determined. The prevalence of bilateral blindness (VA<3/60 in the better eye with available correction) was 3.4% (95% CI: 2.7-4.0), 2.0% (95% CI: 1.4-2.5) for severe visual impairment (VA≥3/60 and <6/60), and 7.4% (95% CI: 6.4- 8.3) for visual impairment (VA≥6/60 and <6/18). Avoidable causes (i.e. cataract, refractive error, aphakia, surgical complications, corneal scarring and phthysis) accounted for 80.0% of bilateral blindness, severe visual impairment (70.7%) and visual impairment (86.2%). Cataract was the main cause of blindness (55.0%). The prevalence of blindness was higher in Gaza (4.9%, 95% CI: 3.7-6.1%) than in the West Bank (2.5%, 95% CI: 1.9-3.1%) and among women (4.3%,95% CI: 3.3-5.2%) compared to men (2.2%,95%CI:1.5-2.9%). Among people who had undergone cataract surgery in the past, only 54.5% of eyes obtained a good outcome (VA≥6/18), 23.2% had a borderline outcome (VA<6/18 and ≥6/60) and 22.3% had a poor outcome (VA<6/60) with available correction. The prevalence of self-reported diabetes mellitus in ≥50 year age group was 26.4% (95% CI: 24.9-27.9). Conclusions: The prevalence of blindness suggests that significant numbers of people in the Occupied Palestinian Territories exist who do not access eye care - predominantly women and those residing in Gaza. Programmes need to focus on maximizing the use of current services by these excluded groups. Copyright: © 2010 Chiang et al.
Keenan T.,University of Manchester |
Keenan T.,St John Eye Hospital |
Sargent N.,St John Eye Hospital
Middle East African Journal of Ophthalmology | Year: 2011
Purpose: To examine the demographics and indications in patients undergoing eye removal at St. John Eye Hospital (SJEH) in Jerusalem, the largest single provider of ophthalmic care in the Palestinian Territories. Materials and Methods : In this retrospective study, medical records were reviewed for patients undergoing enucleation or evisceration at SJEH from November 2004 to March 2007. Calculation of percentage, mean and median was performed for the demographics, and indications for enucleation and evisceration. Results : Thirty-three eyes of 32 patients were removed during the period under study. Twelve enucleations and 21 eviscerations were performed. Mean age was 39 years, and 19 patients were male. Indications included severe trauma (8 eyes), painful blind eye with (5 eyes) or without (9 eyes) infection, and ophthalmic neoplasm (3 eyes). Conclusion : The incidence of surgical eye removal at SJEH from 2004 to 2007 was around one patient per month for a population over three million. This rate appears far lower than those reported in previous studies of similar Palestinian populations. Prompt access to medical care for Palestinians is required to mitigate ophthalmic morbidity. Approximately half of the cases were caused by severe trauma or infection, with rubber bullet injuries responsible for 20% of the traumatic cases.
Bandah-Rozenfeld D.,Hebrew University of Jerusalem |
Mizrahi-Meissonnier L.,Hebrew University of Jerusalem |
Farhy C.,Tel Aviv University |
Obolensky A.,Hebrew University of Jerusalem |
And 7 more authors.
American Journal of Human Genetics | Year: 2010
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations caused by mutations in at least 45 genes. Using homozygosity mapping, we identified a ∼4 Mb homozygous region on chromosome 2p15 in patients with autosomal-recessive RP (arRP). This region partially overlaps with RP28, a previously identified arRP locus. Sequence analysis of 12 candidate genes revealed three null mutations in FAM161A in 20 families. RT-PCR analysis in 21 human tissues revealed high levels of FAM161A expression in the retina and lower levels in the brain and testis. In the human retina, we identified two alternatively spliced transcripts with an intact open reading frame, the major one lacking a highly conserved exon. During mouse embryonic development, low levels of Fam161a transcripts were detected throughout the optic cup. After birth, Fam161a expression was elevated and confined to the photoreceptor layer. FAM161A encodes a protein of unknown function that is moderately conserved in mammals. Clinical manifestations of patients with FAM161A mutations varied but were largely within the spectrum associated with arRP. On funduscopy, pallor of the optic discs and attenuation of blood vessels were common, but bone-spicule-like pigmentation was often mild or lacking. Most patients had nonrecordable electroretinographic responses and constriction of visual fields upon diagnosis. Our data suggest a pivotal role for FAM161A in photoreceptors and reveal that FAM161A loss-of-function mutations are a major cause of arRP, accounting for ∼12% of arRP families in our cohort of patients from Israel and the Palestinian territories. © 2010 The American Society of Human Genetics.
Gordon-Shaag A.,Hadassah College |
Millodot M.,University of Cardiff |
Essa M.,Hadassah College |
Garth J.,St John Eye Hospital |
And 2 more authors.
Optometry and Vision Science | Year: 2013
Purpose: To determine whether consanguinity is a risk factor for keratoconus (KC). Methods: A questionnaire was distributed to all patients presenting to St. John Eye Hospital, Jerusalem, Israel. Questionnaire included data on demographic characteristics and potential risk factors. Patients were divided into two groups: cases with KC, in at least one eye, who were diagnosed by the attending ophthalmologist on the basis of abnormal corneal topography and at least one of the common signs of the disease; and controls presenting for problems other than KC and free of systemic and ocular conditions associated with KC. Multivariate logistic analyses were performed to identify risk factors for KC. Results: Seventy cases and 140 controls participated in the study. Groups were similar with respect to sex and age. Univariate analyses found a significant association between KC and parental first-cousin consanguinity, eye rubbing, allergy, positive family history, education (>12 years), and sunglass wear, whereas asthma, eczema, smoking, and second-cousin consanguinity were not. Multivariate analyses showed that total consanguinity (first-cousin and second-cousin) (adjusted odds ratio, 3.96; p = 0.001), eye rubbing and absence of sunglass wear were significant risk factors. Education was also associated with KC, but family history was not so in the multivariate analysis. Conclusions: This study supports the hypothesis that consanguinity is a significant risk factor for KC and provides strong support for a genetic contribution to the disease. Wearing sunglasses in this environment is beneficial, and the study confirmed that eye rubbing, allergy, and education are also significantly associated with KC after adjusting for other predictors. © 2013 American Academy of Optometry.
Banayot R.G.,St John Eye Hospital
BMC Research Notes | Year: 2016
Background: Eye diseases are important causes of medical consultations, with the spectrum varying in different regions. This hospital-based descriptive study aimed to determine the profile of childhood eye conditions at St. John tertiary Eye hospital serving in Hebron, Palestine. Methods: Files of all new patients less than 16 years old who presented to St. John Eye Hospital - Hebron, Palestine between January 2013 and December 2013 were retrospectively reviewed. Age at presentation, sex, and clinical diagnosis were extracted from medical records. Data were stored and analyzed using Wizard data analysis version 1.6.0 by Evan Miller. The Chi square test was used to compare variables and a p value of less than 0.05 was considered statistically significant. Results: We evaluated the records of 1102 patients, with a female: male ratio of 1:1.1. Patients aged 0-5 years old were the largest group (40.2 %). Refractive errors were the most common ocular disorders seen (31.6 %), followed by conjunctival diseases (23.7 %) and strabismus and amblyopia (13.8 %). Refractive errors were recorded more frequently and statistically significant (p < 0.001) among (11-15) age group. Within the conjunctival diseases category, conjunctivitis and dry eyes was more prominent and statistically significant (p < 0.001) among the 6-10 year old age group. Within the strabismus and amblyopia category, convergent strabismus was more common and statistically significant among the youngest age group (0-5 years old). Conclusions: The most common causes of ocular morbidity are largely treatable or preventable. These results suggest the need for awareness campaigns and early intervention programs. © 2016 Banayot.
PubMed | St John Eye Hospital
Type: | Journal: BMC research notes | Year: 2016
Eye diseases are important causes of medical consultations, with the spectrum varying in different regions. This hospital-based descriptive study aimed to determine the profile of childhood eye conditions at St. John tertiary Eye hospital serving in Hebron, Palestine.Files of all new patients less than 16 years old who presented to St. John Eye Hospital-Hebron, Palestine between January 2013 and December 2013 were retrospectively reviewed. Age at presentation, sex, and clinical diagnosis were extracted from medical records. Data were stored and analyzed using Wizard data analysis version 1.6.0 by Evan Miller. The Chi square test was used to compare variables and a p value of less than 0.05 was considered statistically significant.We evaluated the records of 1102 patients, with a female: male ratio of 1:1.1. Patients aged 0-5 years old were the largest group (40.2%). Refractive errors were the most common ocular disorders seen (31.6%), followed by conjunctival diseases (23.7%) and strabismus and amblyopia (13.8%). Refractive errors were recorded more frequently and statistically significant (p < 0.001) among (11-15) age group. Within the conjunctival diseases category, conjunctivitis and dry eyes was more prominent and statistically significant (p < 0.001) among the 6-10 year old age group. Within the strabismus and amblyopia category, convergent strabismus was more common and statistically significant among the youngest age group (0-5 years old).The most common causes of ocular morbidity are largely treatable or preventable. These results suggest the need for awareness campaigns and early intervention programs.