Measuring the effectiveness of an integrated intervention package to improve the level of infection prevention and control: a multi-centre study in Bangladesh.

BACKGROUND: Infection prevention and control (IPC) is a critical component of delivering safe, effective and high-quality healthcare services, and eliminating avoidable healthcare-associated infections (HAIs) in health facilities, predominantly in population-dense settings such as Bangladesh. AIM: Our study aimed to assess the effect of an integrated intervention package in improving the IPC level of the health facilities in Bangladesh. METHODS: We conducted a pre-post intervention study in six district hospitals (DHs) and 13 Upazila Health Complexes (UHCs) in the six districts of Bangladesh. Baseline and endline assessments were conducted between March and December 2021 using the adapted World Health Organization Infection Prevention and Control Assessment Framework (WHO-IPCAF) tool. The IPCAF score, ranging from 0-800, was calculated by adding the scores of eight components, and the IPC promotion and practice level was categorized as Inadequate (0-200), Basic (201-400), Intermediate (401-600) and Advanced (601-800). The integrated intervention package including IPC committee formation, healthcare provider training, logistics provision, necessary guidelines distribution, triage/flu corners establishment, and infrastructure development was implemented in all facilities. RESULTS: The average IPCAF score across all the facilities showed a significant increase from 16% (95% CI: 11.5-20.65%) to 54% (95% CI: 51.4-57.1%). Overall, the IPCAF score increased by 34 percentage points (P<0.001) in DHs and 40 percentage points (P<0.001) in UHCs. Following the intervention, 12 (three DHs, nine UHCs) of 19 facilities progressed from inadequate to intermediate, and another three DHs upgraded from basic to intermediate in terms of IPC level. CONCLUSION: The integrated intervention package improved IPCAF score in all facilities.

Socioeconomic disparities in diabetes-concordant comorbidity: national health interview survey, 1997-2018.

OBJECTIVE: Although social disparities in morbidity and mortality are well-documented, little is known how socioeconomic status (SES) shapes diabetes-concordant comorbidity (DCC). This study examines socioeconomic inequalities in DCC among adults with diabetes in the United States. STUDY DESIGN: The study incorporated a cross-sectional nationally representative household health survey. METHODS: This study used data from the National Health Interview Survey, 1997-2018. The analysis included 56,192 adults aged 30 or above with diabetes. Multinomial logistic regression was used to obtain relative risk ratios in gender-stratified models after adjusting for sociodemographic covariates. RESULTS: The multivariable-adjusted analyses suggest that across all SES indicators and in both men and women, individuals with lower SES had greater odds of DCC than individuals with higher SES. The associations of SES indicators with DCC were larger in magnitude among women than in men. For example, compared to individuals with a college or higher degree, men with less than a high school degree were 2.06 times (95% confidence interval = 1.76-2.41) and women with less than a high school degree were 3.19 times (95% confidence interval = 2.67-3.82) more likely to have 3 or more DCCs. Similar associations were observed for other indicators of SES. CONCLUSION: Study findings suggest strong social status and gender-based patterns in DCC. Identifying population groups with poor social status may be useful for informing interventions aiming to improve healthcare services of diabetes-related complications.

An Observational Study of Fixed Drug Eruption in A Tertiary Care Hospital in Bangladesh.

Fixed drug eruption (FDE) is a distinctive pattern of cutaneous adverse drug reaction. Characteristically the eruption recurs at the same site on re exposure to the offending agent. Aim of this study was to evaluate and identification of the various offending drugs causing FDE which may help the physician to limit the associate complication regarding the drug. This observational cross sectional study was conducted from 1st June 2021 to 31st May 2022 in the department of Dermatology & Venereology of Mymensingh Medical College Hospital after taking approval from institutional ethical committee. A detailed history with clinical evaluation were done for all patients with FDE and thereby recorded in a pre designed proforma. Analysis of data was done using Microsoft Excel 2010 Spread sheet. Out of 65 cases 36(55.38%) were male and 29(44.6%) were female. Majority of cases were found in the age group of 31 to 40 years. The most common group of drug causing FDE was NSAID (52.31%) followed by antimicrobials (44.61%) and anti epileptics (3.07%). Ibuprofen (20.0%) was the most common offending drug followed by doxycycline (18.46%), diclofenac and fluconazole (13.84%), naproxen (9.23%), ciprofloxacin (7.69%), paracetamol (6.15%), metronidazole (4.61%), carbamazepine (3.07%) and aspirin (3.07%) respectively. Extremities (43.07%) were the most frequently involved site followed by trunk (29.23%) and face (10.77%). Generalized FDE found in 16.92% cases. Although FDE are very common the offending drugs show some regional variation as a result of changing trends of pharmacotherapy.

Assessment of essential minerals and physico-chemical analysis of floral origins fresh honey produced by Apis mellifera.

Honey is one of the best nutritious substances in the world, having different services in the body functions regulation. Ten elements (K, Na, Ca, Co, Cr, Mn, Mo, Ni, Pb, Se) from honey samples were analyzed from 80 different locations of Punjab and ten floras. The aim of the present study was to determine the quality and quantity of minerals and Physico-chemical analysis in honey. A flame photometer was used to measure the concentration of major minerals (K, Ca and Na). The concentration of micro minerals (Co, Cr, Mn, Mo, Ni, Pb and Se) was analyzed using Atomic Absorption Spectrometer. The concentration of macro-elements obtained was as follow (in ppm): K (166-1732), Na (107-418) and Ca (07-99), while the concentration of microelements (in ppm) Co (1-2), Cr (>1), Mn (<1), Mo (1.818), Ni (1.911), Pb (<1) and Se (1.968). The most abundant minerals were potassium, calcium and sodium, ranging between 396-810.5, 17.5-640.63 and 169.88-238.62 ppm, respectively. However, the trace mineral elements of honey were obtained in the order of decreasing Se > Co > Ni > Pb > Cr > Mo > Mn. The findings showed that all the heavy metals like Co, Cr, Ni and Pb were present in trace amounts and close to International Honey Quality Standard. The result of given honey samples represented highest value of moisture (31.23%), color (80 mm pfund), pH (8.23), acidity (72.02 meq/kg), electrical conductivity (0.85 ms/cm) and ash contents (0.83%).

Orbital Exenteration for Advanced Periocular Adnexal Malignancies: Curative Versus Palliative Surgical Intent.

PURPOSE: To evaluate the survival benefit of orbital exenteration in periocular malignancy, taking account of preoperative intent. PATIENTS AND METHODS: Patients undergoing exenteration had retrospective chart review for demographics, clinical features, radiology, histology, and outcome. Based on systemic tumor status, the patient was either "Class I" (with absent or well-controlled systemic disease) or "Class II" (incurable active metastatic disease), and based on the extent of orbital disease and exenteration intent , was classed as either "Group A" (locally curative) or "Group B" (locally palliative). RESULTS: One hundred thirty-three patients (78 females; 59%) underwent exenteration at an average age of 61 years (median 64; range 5-91) for sebaceous, squamous and basal cell carcinomas, or for melanoma (22%, 19%, 11%, and 28%, respectively). There were 20% systemically incurable patients (26/133; Class II), and incurable local disease ("Group B") in 5% (5/107) of Class I and 15% (4/26) Class II patients. The overall survival (OS) was 88% at 12 months, 57% at 5 years, and 41% at 10 years, prognosis being worse with age more than 70 years ( p = 0.005), prior local radiotherapy ( p = 0.005) or positive resection margins ( p = 0.002). The mean OS for Type IA exenteration (145 months; 95% CI 122-168) was significantly different to 50 months for Type IB (95% CI 22-79; p = 0.02); likewise, OS for Type IIA procedures (31 months; 95% CI 11-51) was different to Type IIB (19 months; 95% CI 2-36) ( p = 0.001). CONCLUSION: Exenteration confers a significant survival with advanced periocular malignancies, even in patients with uncontrollable systemic disease, or where the local disease is deemed incurable.

Day-Case Admission for External Dacryocystorhinostomy in Preschool Children.

PURPOSE: Epistaxis during or after dacryocystorhinostomy may present a risk of circulatory compromise, particularly in young children. In view of this concern, we reviewed the outcome and complications of external dacryocystorhinostomy in preschool children, aged less than 4½ years. DESIGN: Retrospective noncomparative series. PATIENTS AND METHODS: A case-note review for a series of preschool children undergoing external dacryocystorhinostomy as a day-case admission at Moorfields Eye Hospital between 1992 and 2018; all surgery was consultant-led. Details were taken of the type of surgery, any intraoperative or postoperative complications (surgical or anesthetic), any unplanned admissions after surgery, and the functional outcome. To assess the veracity of the medical records, the parents for a sample of 67 children were contacted to check whether there had been any unrecorded events or concerns. OUTCOME MEASURES: Anesthetic or surgical complications, unplanned admissions, and postoperative events. RESULTS: One-hundred and eighty-seven children (117 boys; 63%) underwent 228 external dacryocystorhinostomies during 201 admissions, the average admission age being 36.8 months (median, 37.5; range, 5.5-53.5 months). Forty-one children (20%) underwent bilateral dacryocystorhinostomy: the 27 having simultaneous bilateral surgery dacryocystorhinostomy were operated at a mean age of 38.2 months (median, 37.5; range, 15.5-53.5 months), this being significantly different from the average age at first operation in 14 children undergoing sequential admission for bilateral dacryocystorhinostomy (mean, 24.9 months; median, 27.0; range, 5.5-42.5) (p = 0.0023). No adverse anesthetic events were recorded, 2 children (2 dacryocystorhinostomies) required temporary nasal packing at the end of surgery for epistaxis, and one further child was admitted for overnight observation because of persistent mild epistaxis after bilateral dacryocystorhinostomy. Three children (3 dacryocystorhinostomies) had a mild, self-limiting secondary epistaxis, and there were no unplanned emergency admissions. The telephone survey did not reveal any disparity in the medical records. CONCLUSION: With experienced surgeons and anesthetists in a suitable specialist hospital, external dacryocystorhinostomy in preschool children would appear to be a safe and effective procedure, with few and minor complications. Although facilities for overnight observation should be available, the surgery can typically be planned as a day-case admission, and simultaneous bilateral surgery is also possible in this age-group.

Association between child marriage and institutional delivery care services use in Bangladesh: intersections between education and place of residence.

OBJECTIVES: To examine the association between child marriage and women's use of institutional delivery care services and whether education and place of residence moderate this association. STUDY DESIGN: The study used de-identified data from four rounds (2004, 2007, 2011, and 2014) of the Bangladesh Demographic and Health Survey (BDHS). The BDHS is a cross-sectional survey conducted every three years. The analysis was based on 16,099 ever-married women aged 15-49 years with at least one live birth in the three years before the survey. METHODS: The study used multivariable logistic regression models with interaction terms between age at marriage, education, and place of residence. Adjusted predicted probabilities of outcome variables were computed from interaction models. RESULTS: Child marriage is significantly associated with decreased use of institutional delivery care services. Compared to women who married at adult ages (≥18 years), women who married between ages of 12-14 years were the most disadvantaged in having delivered at a health facility (odds ratio [OR]: 0.62; 95% confidence interval [CI]: 0.51-0.74) and having a skilled attendant present (OR: 0.63; 95% CI: 0.53-0.75) at the birth of their last child. The analysis suggests that the effect of education on the use of institutional delivery care is stronger among women married at age 18 or older compared to women who married younger than age 18 years. Further, the joint effect of age at marriage and education is stronger for women living in urban than rural place of residence. CONCLUSIONS: Increasing the age at marriage and discouraging child marriage may be a fruitful way to improve mother and child health in Bangladesh. Encouraging girls to complete high school and pursue college education would also help decline the rate of child marriage and, in turn, benefit social mobility and health.

Management of thyroid eye disease in the United Kingdom: A multi-centre thyroid eye disease audit.

This article aims to provide baseline data and highlight any major deficiencies in the current level of care provided for adult patients with thyroid eye disease (TED). We undertook a prospective, nonrandomized cross-sectional multicenter observational study. During a 3-month period June-August 2014, consecutive adult patients with TED who presented to nominated specialist eye clinics in the United Kingdom, completed a standardized questionnaire. Main outcome measures were: demographics, time from diagnosis to referral to tertiary centre, time from referral to review in specialist eye clinic, management of thyroid dysfunction, radioiodine and provision of steroid prophylaxis, smoking, and TED classification. 91 patients (mean age 47.88 years) were included. Female-to-male ratio was 6:1. Mean time since first symptoms of TED = 27.92 (73.71) months; from first visit to any doctor with symptoms to diagnosis = 9.37 (26.03) months; from hyperthyroidism diagnosis to euthyroidism 12.45 (16.81) months. First, 13% had received radioiodine. All those with active TED received prophylactic steroids. Seven patients who received radioiodine and did not have TED at the time went on to develop it. Then, 60% patients were current or ex-smokers. 63% current smokers had been offered smoking cessation advice. 65% patients had active TED; 4% had sight-threatening TED. A large proportion of patients (54%) were unaware of their thyroid status. Not enough patients are being provided with smoking cessation advice and information on the impact of smoking on TED and control of thyroid function.

Periocular tuberculous disease: experience from a UK eye hospital.

BACKGROUND/AIMS: To describe our experience of patients presenting to a tertiary referral adnexal department with orbital or periocular tuberculosis (TB) over a 10-year period. METHODS: We reviewed all patients with a diagnosis of orbital or periocular TB from 2001 to 2011 in Moorfields Eye Hospital. RESULTS: Nine patients were identified over the 10-year period. Three cases of cutaneous TB, two cases of TB dacryocystitis and four cases of diffuse orbital TB were identified. All patients lived in the UK, but were born in the African or Asian subcontinents. Three patients had known prior (and treated) pulmonary TB and all were immunocompetent.All patients presented with periocular discomfort. After tissue diagnosis, all patients were referred for triple antituberculous therapy (ATT); all patients completed their course of ATT, with resolution of all orbital and lacrimal masses. There were no recurrences at a median follow-up of 26 weeks (range 1 month-5 years). One patient, who required later evisceration, was the only case with loss of vision. CONCLUSIONS: Orbital and periocular TB can be difficult to diagnose and lead to diagnostic delays, with emphasis on clinical suspicion rather than a positive culture result; the management of such cases is not only surgical, but also medical and social. Although surgical intervention can alleviate symptoms and prevent visual loss, the use of a complete course of ATT is paramount for disease management and the patient and their family need to be counselled about the associated public health issues.

Cranio-orbital primary intraosseous haemangioma.

PURPOSE: Primary intraosseous haemangioma (IOH) is a rare benign neoplasm presenting in the fourth and fifth decades of life. The spine and skull are the most commonly involved, orbital involvement is extremely rare. We describe six patients with cranio-orbital IOH, the largest case series to date. PATIENTS AND METHODS: Retrospective review of six patients with histologically confirmed primary IOH involving the orbit. Clinical characteristics, imaging features, approach to management, and histopathological findings are described. RESULTS: Five patients were male with a median age of 56. Pain and diplopia were the most common presenting features. A characteristic 'honeycomb' pattern on CT imaging was demonstrated in three of the cases. Complete surgical excision was performed in all cases with presurgical embolisation carried out in one case. In all the cases, histological studies identified cavernous vascular spaces within the bony tissue. These channels were lined by single layer of cytologically normal endothelial cells. DISCUSSION: IOCH of the cranio-orbital region is rare; in the absence of typical imaging features, the differential diagnosis includes chondroma, chondrosarcoma, bony metastasis, and lymphoma. Surgical excision may be necessary to exclude more sinister pathology. Intraoperative haemorrhage can be severe and may be reduced by preoperative embolisation.

New vaccine adoption: qualitative study of national decision-making processes in seven low- and middle-income countries.

As more new and improved vaccines become available, decisions on which to adopt into routine programmes become more frequent and complex. This qualitative study aimed to explore processes of national decision-making around new vaccine adoption and to understand the factors affecting these decisions. Ninety-five key informant interviews were conducted in seven low- and middle-income countries: Bangladesh, Cameroon, Ethiopia, Guatemala, Kenya, Mali and South Africa. Framework analysis was used to explore issues both within and between countries. The underlying driver for adoption decisions in GAVI-eligible countries was the desire to seize GAVI windows of opportunity for funding. By contrast, in South Africa and Guatemala, non-GAVI-eligible countries, the decision-making process was more rooted in internal and political dynamics. Decisions to adopt new vaccines are, by nature, political. The main drivers influencing decisions were the availability of funding, political prioritization of vaccination or the vaccine-preventable disease and the burden of disease. Other factors, such as financial sustainability and feasibility of introduction, were not as influential. Although GAVI procedures have established more formality in decision-making, they did not always result in consideration of all relevant factors. As familiarity with GAVI procedures increased, questioning by decision-makers about whether a country should apply for funding appeared to have diminished. This is one of the first studies to empirically investigate national processes of new vaccine adoption decision-making using rigorous methods. Our findings show that previous decision-making frameworks (developed to guide or study national decision-making) bore little resemblance to real-life decisions, which were dominated by domestic politics. Understanding the realities of vaccine policy decision-making is critical for developing strategies to encourage improved evidence-informed decision-making about new vaccine adoptions. The potential for international initiatives to encourage evidence-informed decision-making should be realised, not assumed.

Orbital decompression for Graves' orbitopathy in England.

AIMS: The purpose of this study was to obtain data on orbital decompression procedures performed in England, classed by hospital and locality, to evaluate regional variation in care. METHODS: Data on orbital decompression taking place in England over a 2-year period between 2007 and 2009 were derived from CHKS Ltd and analysed by the hospital and primary care trust. RESULTS AND CONCLUSIONS: In all, 44% of these operations took place in hospitals with an annual workload of 10 or fewer procedures. Analysis of the same data by primary care trust suggests an almost 30-fold variance in the rates of decompression performed per unit population. Expertise available to patients with Graves' orbitopathy and rates of referral for specialist care in England appears to vary significantly by geographic location. These data, along with other outcome measures, will provide a baseline by which progress can be judged.

Impact of measles elimination activities on immunization services and health systems: findings from six countries.

BACKGROUND: One of the key concerns in determining the appropriateness of establishing a measles eradication goal is its potential impact on routine immunization services and the overall health system. The objective of this study was to evaluate the impact of accelerated measles elimination activities (AMEAs) on immunization services and health systems in 6 countries: Bangladesh, Brazil, Cameroon, Ethiopia, Tajikistan, and Vietnam. METHODS: Primary data were collected from key informant interviews and staff profiling surveys. Secondary data were collected from policy documents, studies, and reports. Data analysis used qualitative approaches. RESULTS: This study found that the impact of AMEAs varied, with positive and negative implications in specific immunization and health system functions. On balance, the impacts on immunization services were largely positive in Bangladesh, Brazil, Tajikistan, and Vietnam, while negative impacts were more significant in Cameroon and Ethiopia. CONCLUSIONS: We conclude that while weaker health systems may not be able to benefit sufficiently from AMEAs, in more developed health systems, disruptions to health service delivery are unlikely to occur. Opportunities to strengthen the routine immunization service and health system should be actively sought to address system bottlenecks in order to incur benefits to eradication program itself as well as other health priorities.

Detection and Processing Techniques of FECG Signal for Fetal Monitoring.

Fetal electrocardiogram (FECG) signal contains potentially precise information that could assist clinicians in making more appropriate and timely decisions during labor. The ultimate reason for the interest in FECG signal analysis is in clinical diagnosis and biomedical applications. The extraction and detection of the FECG signal from composite abdominal signals with powerful and advance methodologies are becoming very important requirements in fetal monitoring. The purpose of this review paper is to illustrate the various methodologies and developed algorithms on FECG signal detection and analysis to provide efficient and effective ways of understanding the FECG signal and its nature for fetal monitoring. A comparative study has been carried out to show the performance and accuracy of various methods of FECG signal analysis for fetal monitoring. Finally, this paper further focused some of the hardware implementations using electrical signals for monitoring the fetal heart rate. This paper opens up a passage for researchers, physicians, and end users to advocate an excellent understanding of FECG signal and its analysis procedures for fetal heart rate monitoring system.

Oculovagal reflex in paediatric orbital floor fractures mimicking head injury.

BACKGROUND: The oculovagal reflex is well described in ophthalmic surgery, but may be caused by any manner of pressure on the globe. Children with orbital blowout fractures present in a different manner from adults. The classic presentation in children is a white eye injury (ie, no subconjunctival haemorrhage) with upgaze diplopia and general malaise. METHODS: A retrospective audit is presented of paediatric and young adult patients referred to the Orbital Service at St George's Hospital who required surgical intervention. RESULTS: One-third of children with orbital blowout fractures are admitted for head injury observations, while the true cause for the symptoms goes unrecognised and uninvestigated. CONCLUSIONS: Orbital blowout fractures in children require more swift intervention than in adults if muscle ischaemia and permanent impairment of the vision is to be avoided. The delay for head injury observation may therefore compromise the surgical outcome.

Polymorphisms of HLA genes in Western Javanese (Indonesia): close affinities to Southeast Asian populations.

Identification of human leukocyte antigen (HLA) antigens that are known as the highest polymorphic genes has become a valuable tool for tissue transplantation, platelet transfusion, disease susceptibility or resistance, and forensic and anthropological studies. In the present study, the allele and haplotype frequencies of HLA-A, HLA-B, and HLA-DRB1 were studied in 237 unrelated healthy Western Javanese (Indonesia) by the high-resolution polymerase chain reaction-Luminex method. A total of 18 A, 40 B, and 20 DRB1 alleles were identified. The most frequent HLA-A, -B, and -DRB1 alleles were HLA-A*2407 (21.6%), HLA-B*1502 (11.6%) and HLA-B*1513 (11.2%), and DRB1*1202 (37.8%), respectively. The most frequent two-locus haplotypes were HLA-A*2407-B*3505 (7%) and HLA-B*1513-DRB1*1202 (9.2%), and three-locus haplotypes were HLA-A*3401-B*1521-DRB1*150201 (4.6%), HLA-A*2407-B*3505-DRB1*1202 (4.3%), and HLA-A*330301-B*440302-DRB1*070101 (4.2%). HLA allele and haplotype frequencies in addition to phylogenetic tree and principal component analyses based on the four-digit sequence-level allele frequencies for HLA-A, HLA-B, and HLA-DRB1 showed that Western Javanese (Indonesia) was closest to Southeast Asian populations.

Inaccuracy of diagnosis in a cohort of patients on the waiting list for dacryocystorhinostomy when the diagnosis was made by only syringing the lacrimal system.

PURPOSE: Accurate identification of the factors contributing to epiphora is essential in directing appropriate management and treatment strategies. The authors applied a methodical strategy of assessment for epiphora to patients who were already on the waiting list for dacryocystorhinostomy (DCR). The findings were compared to the original findings. METHODS: Forty-four eyes of 35 patients listed for DCR were re-examined. All canaliculi were examined using four tests: dye disappearance, Jones 1 (dye retrieval), probing using Bowman probes, and syringing of the nasolacrimal duct (NLD) under local anesthesia. Some patients were examined using an endocanalicular mini-endoscope. Patients with NLD obstruction underwent DCR and those with canalicular and NLD stenosis underwent intubation of the lacrimal system-canaliculus, lacrimal sac, and nasolacrimal duct-using silicone stents. The authors refer to this as canaliculodacryocystoplasty (CDCP). The patients were assessed for symptoms of epiphora at 12 months. Forty-four eyes had been listed for DCR. They had been originally diagnosed, by means of lacrimal syringing, as NLD obstruction (24 eyes) or stenosis (12 eyes), and functional blocks (8 eyes). RESULTS: Four out of the original 44 planned DCR surgeries were performed after re-evaluation. After re-examination, 28 lacrimal systems were found to have canalicular stenosis, 4 NLD stenosis, 4 NLD obstruction, 4 punctal phimosis, 3 ocular surface disease, and 1 patient was asymptomatic. Twenty-eight lacrimal systems underwent CDCP, 4 underwent DCR, 4 had punctoplasty, and 4 had probing alone. Three had treatment for ocular surface disease and one patient required no treatment. After a follow-up of 12 months, 41 (93%) systems had improvement or were free of their CONCLUSIONS: Syringing of the lacrimal apparatus may result in a high false positive diagnosis of NLD obstruction. Canalicular pathology is not uncommon in this cohort of patients and may be underdiagnosed.

Epibulbar osseous choristoma: benign pathology simulating an intraorbital foreign body.

Epibulbar osseous choristomas typically present, in the young, as a supero-temporal subconjunctival nodule and radiographic imaging often shows a densely radio-opaque fleck on the sclera--this often being misinterpreted as a parabulbar foreign body. Four illustrative cases are presented.

SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.

BACKGROUND: Developmental eye anomalies, which include anophthalmia (absent eye) or microphthalmia (small eye) are an important cause of severe visual impairment in infants and young children. Heterozygous mutations in SOX2, a SOX1B-HMG box transcription factor, have been found in up to 10% of individuals with severe microphthalmia or anophthalmia and such mutations could also be associated with a range of non-ocular abnormalities. METHODS: We performed mutation analysis on a new cohort of 120 patients with congenital eye abnormalities, mainly anophthalmia, microphthalmia and coloboma. Multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ hybridisation (FISH) were used to detect whole gene deletion. RESULTS: We identified four novel intragenic SOX2 mutations (one single base deletion, one single base duplication and two point mutations generating premature translational termination codons) and two further cases with the previously reported c.70del20 mutation. Of 52 patients with severe microphthalmia or anophthalmia analysed by MLPA, 5 were found to be deleted for the whole SOX2 gene and 1 had a partial deletion. In two of these, FISH studies identified sub-microscopic deletions involving a minimum of 328 Kb and 550 Kb. The SOX2 phenotypes include a patient with anophthalmia, oesophageal abnormalities and horseshoe kidney, and a patient with a retinal dystrophy implicating SOX2 in retinal development. CONCLUSION: Our results provide further evidence that SOX2 haploinsufficiency is a common cause of severe developmental ocular malformations and that background genetic variation determines the varying phenotypes. Given the high incidence of whole gene deletion we recommend that all patients with severe microphthalmia or anophthalmia, including unilateral cases be screened by MLPA and FISH for SOX2 deletions.