Cataract Surgical Services in Palestine.

PURPOSE: Cataract surgery, quantity and quality, is an indicator of ophthalmic care. A comprehensive assessment of cataract surgical services has never been carried out in Palestine, including West Bank, Gaza Strip and East Jerusalem. The objective of this study was to estimate the cataract surgical rate in 2015 to and to explore the modes of payment and referral systems. METHODS: A cross-sectional study conducted between June and August 2016. Medical Directors from Cataract Surgical Centres in Palestine were interviewed using a structured questionnaire to extract data on cataract output and surgical techniques. Additionally, data were collected on modes of payment for cataract services. The cataract surgical rate was calculated by dividing the total cataract output in 2015 by the estimated population of Palestine in millions. RESULTS: In 2015, 9908 cataract surgeries were carried out in 22 centres. The cataract surgical rate was 2,117 operations per million population. Phacoemulsification was the most common technique (73.4%), however in government centres 67% were performed by extracapsular cataract extraction.In the Gaza Strip, 56.6% of cataract surgeries were operated at government centres, and 42.8% were operated at NGO centres while in West Bank, only 12% of cataract surgeries were operated at government centres, with two-thirds of cataracts diagnosed at governmental centres being referred to private and NGO centres. Seventy eight percent of cataract surgeries were funded by insurance, of which the government insurance scheme contributed 65%. CONCLUSION: The cataract surgical rate in Palestine falls short of the required WHO target. The majority of cataract surgeries are funded by insurance.

Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies.

Whole Exome Sequencing (WES) is a powerful approach for detecting sequence variations in the human genome. The aim of this study was to investigate the genetic defects in Jordanian patients with inherited retinal dystrophies (IRDs) using WES. WES was performed on proband patients' DNA samples from 55 Jordanian families. Sanger sequencing was used for validation and segregation analysis of the detected, potential disease-causing variants (DCVs). Thirty-five putatively causative variants (6 novel and 29 known) in 21 IRD-associated genes were identified in 71% of probands (39 of the 55 families). Three families showed phenotypes different from the typically reported clinical findings associated with the causative genes. To our knowledge, this is the largest genetic analysis of IRDs in the Jordanian population to date. Our study also confirms that WES is a powerful tool for the molecular diagnosis of IRDs in large patient cohorts.

Effectiveness of interventions to increase uptake and completion of treatment for diabetic retinopathy in low- and middle-income countries: a rapid review protocol.

BACKGROUND: Vision loss due to diabetic retinopathy can largely be prevented or delayed through treatment. Patients with vision-threatening diabetic retinopathy are typically offered laser or intravitreal injections which often require more than one treatment cycle. However, treatment is not always initiated, or it is not completed, resulting in poor visual outcomes. Interventions aimed at improving the uptake or completion of treatment for diabetic retinopathy can potentially help prevent or delay visual loss in people with diabetes. METHODS: We will search MEDLINE, Embase, Global Health and Cochrane Register of Studies for studies reporting interventions to improve the uptake of treatment for diabetic retinopathy (DR) and/or diabetic macular oedema (DMO), compared with usual care, in adults with diabetes. The review will include studies published in the last 20 years in the English language. We will include any study design that measured any of the following outcomes in relation to treatment uptake and completion for DR and/or DMO: (1) proportion of patients initiating treatment for DR and/or DMO among those to whom it is recommended, (2) proportion of patients completing treatment for DR and/or DMO among those to whom it is recommended, (3) proportion of patients completing treatment for DR and/or DMO among those initiating treatment and (4) number and proportion of DR and/or DMO rounds of treatment completed per patient, as dictated by the treatment protocol. For included studies, we will also report any measures of cost-effectiveness when available. Two reviewers will screen search results independently. Risk of bias assessment will be done by two reviewers, and data extraction will be done by one reviewer with verification of 10% of the papers by a second reviewer. The results will be synthesised narratively. DISCUSSION: This rapid review aims to identify and synthesise the peer-reviewed literature on the effectiveness of interventions to increase uptake and completion of treatment for DR and/or DMO in LMICs. The rapid review methodology was chosen in order to rapidly synthesise the available evidence to support programme implementers and policy-makers in designing evidence-based health programmes and public health policy and inform the allocation of resources. SYSTEMATIC REVIEW REGISTRATION: OSF osf.io/h5wgr.

Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees.

Purpose: The aim of this study is to identify disease-causing variants in five consanguineous Jordanian families with a history of autosomal recessive retinitis pigmentosa (RP), and to investigate the clinical variability across the affected individuals. Methods: Exome sequencing (ES) and ophthalmic examinations were performed to classify the underlying RP-causative variants and their pathogenic consequences. The candidate variants in the affected and unaffected family members underwent segregation analyses with Sanger sequencing. Results: We described four variants in the RP1 and RLBP1 genes as disease-causing across the five families, including novel (c.398delC; p.Pro133GlnfsTer126) and recurrent (c.79delA; p.Thr27ProfsTer26) variants in RLBP1 and two previously reported variants in RP1 ((c.1126C>T; p.Arg376Ter) and (c.607G>A; p.Gly203Arg)). The consequent clinical manifestations were thoroughly investigated using a battery of ophthalmic tests, including electroretinography (ERG), optical coherence tomography (OCT), visual acuity (VA), and fundus examination. The phenotypes indicated clinical heterogeneity, typical RP for variants in RP1, and retinitis punctata albescens (RPA) for variants in RLBP1. Conclusions: This study extends the pathogenic variant spectrum for the RP1 and RLBP1 genes. The study also revealed the consequent clinical progression, severity, and presentation of RP. Furthermore, we confirm that ES is an efficient molecular diagnostic approach for RP.

Novel CERKL variant in consanguineous Jordanian pedigrees with inherited retinal dystrophies.

OBJECTIVE: To identify the disease-causing variants in 2 families with autosomal recessive inherited retinal dystrophies (IRDs) and to characterize phenotypic variability across the affected family members. DESIGN: Exome sequencing and ophthalmic clinical examination study. PARTICIPANTS: Six members from 2 consanguineous Jordanian families with IRD. METHODS: Ophthalmic examinations and whole-exome sequencing (WES) were performed to identify IRD-causing variants in affected individuals from each family, followed by segregation analysis of candidate variants in affected and unaffected family members by Sanger sequencing. RESULTS: We identified 2 different homozygous deletion variants in CERKL in each family: a novel pathogenic variant, c.450_451delAT, and a known variant, c.1187_1188delTG. Both variants co-segregated with the disease in all affected family members. The resulting phenotypes further supported that CERKL is associated with cone-rod dystrophy (CRD) rather than retinitis pigmentosa (RP), as originally established. CONCLUSION: Our study expands the genotypic spectra of CERKL variants, providing insights into the relevant pathogenesis of RP/CRD. We also confirm that the WES approach is a valuable tool for the molecular diagnosis of retinopathies.