A twin study of cilioretinal arteries, tilted discs and situs inversus.

PURPOSE: To establish the prevalence and heritability of cilioretinal arteries (CRAs), tilted discs (TDs) and situs inversus (SI). METHODS: Fundus photos from the Twins UK Adult Twin registry twin database were analyzed: 1812 individuals, 526 complete monozygotic (MZ) twin pairs and 336 complete dizygotic (DZ) pairs. Images were assessed non-stereoscopically on a computer screen by the same ophthalmologist for presence of CRAs, TDs or SI. Prevalence figures, probandwise concordances and heritabilities were calculated. RESULTS: Prevalence of a CRA in subjects' right eyes was 28.6% (26.5-30.8). Prevalence of subjects with a CRA in at least one eye was 45.0% (42.6-47.5), with a TD in at least one eye was 1.2% (0.8-1.9), and with SI at least one eye was 0.5% (0.3-1.0). There was no association between birth weight and presence of CRA. Concordance for CRA in at least one eye (MZ twins) was 60% (95% CI 55-64), and (DZ) was 45% (95% CI 39-51). Heritability for CRAs in at least one eye was 49.4% (95% CI 38.1-59.7) and for both eyes was 32.9% (95% CI 10.4-53.3). We were unable to calculate meaningful heritabilities or concordances for TDs and situs SI, due to insufficient numbers. CONCLUSIONS: The presence of CRAs appears to be moderately heritable, with greater variance explained by individual environmental factors or even stochastic events. They were not associated with low birth weight. Future genetic research and studies of birth/lifecourse cohorts may offer further insights into the etiology of congenital papillovascular abnormalities.

An online glaucoma educational course for patients to facilitate remote learning and patient empowerment.

In both face-to-face and teleophthalmology glaucoma clinics, there are significant time constraints and limited resources available to educate the patient and their carers regarding the glaucoma condition. Glaucoma patients are often not satisfied with the content and amount of information they receive and have demonstrated a substantial lack of knowledge regarding their condition. Innovative educational tools that facilitate accessible digital remote patient education can be a powerful adjunct to empower patients in becoming healthcare partners.We describe the development of a free, comprehensive, multimodal online glaucoma patient education course for adults with glaucoma, their family and friends and carers, with the aim of providing a readable resource to aid remote learning and understanding of the condition.The working group for the development of the course comprised of consultants, medical practitioners and education specialists and expert patients. Given the specialised nature of ophthalmology and glaucoma, certain aspects can be difficult to conceptualise, and, therefore, clear and adequate explanations of concepts are provided in the course using diagrams, flow charts, medical illustrations, images, videos, written text, analogies and quizzes.The course is available in a short and long version to suit different learning needs which take approximately 2 hours and 10 hours to complete respectively. The contents list allows course takers to find sections relevant to them and it can be taken anywhere, as long as there is Internet access.We invite you to share this resource with your patients and their families, friends and carers.

A retrospective analysis of cervical spine radiography in a specialist trauma unit for head injury.

OBJECTIVES: The performance of an adequate and complete series of cervical radiographs in the trauma patient is essential in order to ensure safe trauma management. Eastern Association for the Surgery of Trauma (EAST) has produced widely recognised guidelines with which trauma units should comply. The aim of the study is to ascertain the adequacy of cervical spine imaging of trauma patients in a specialist trauma unit (head injury) using EAST guidelines as gold standard. An additional assessment of institutional reporting accuracy is conducted. METHODS: Data were examined from 81 consecutive trauma patients requiring cervical spine radiography. EAST guidelines were applied retrospectively to this cohort in order to define guideline compliance. An additional cohort assessment was conducted addressing the accuracy and adequacy of the formal institutional reports associated with these radiographs. RESULTS: 99% of patients undergoing a full cervical trauma series had at least one inadequate initial image. Of these, 85% had at least one inadequate lateral or peg view (of which 26% did not have repeat radiographs performed). Over one-third of all trauma patients left the emergency department with inadequate cervical spine imaging (incomplete cervical spine series or inadequate films). From the institutional reporting perspective, only 27% of all inadequate initial and repeat lateral or peg views were subsequently explicitly reported as being inadequate. DISCUSSION: These findings call into question current practice. Clearly, multiple confounders exist in the context of process variability in a heterogeneous population such as that attending an emergency department. This study offer solutions to address this problem.

Managing risk in the face of adversity: design and outcomes of rapid glaucoma assessment clinics during a pandemic recovery.

BACKGROUND: The provision of timely care to the high volume of glaucoma patients stratified as "low risk" following pandemic-related appointment deferrals continues to prove challenging for glaucoma specialists. It is unknown whether stratification as "low risk" remains valid over time, raising the potential risk of harm during this period if left unmonitored. This study aimed to evaluate whether Rapid Glaucoma Assessment Clinics (RGACs) are an effective method of assessing "low-risk" patients in order to identify those who may need an escalation of care, therefore reducing the risk of the future incidents of preventable vision loss. METHODS: RGACs were developed which comprised a brief advance telephone history by a clinician and then ophthalmic technician-measured visual acuity and intraocular pressure in clinic. We report outcomes from the first month of operation describing attendance patterns, the proportion of patients from this "low risk" cohort requiring escalation and underlying reasons for treatment escalations. RESULTS: 639 patients were invited to attend RGACs. 75% attended their booked appointment. Pre-attendance telephone consultations were associated with lower non-attendance rates (13.9% vs 29.3%, p < 0.00001). 15% of patients were no longer deemed to remain at "low risk" with further expedited clinical review scheduled. 10.4% of patients required an escalation in treatment following review. CONCLUSIONS: RGACs are an effective approach to deliver high throughput clinical assessments for large numbers of "low-risk" glaucoma patients with deferred appointments. They enable the rapid identification and treatment of patients who would otherwise face significantly delayed review reducing the risk of future preventable vision loss.

BLEB-RELATED ENDOPHTHALMITIS AFTER USE OF THE INVITRIA INJECTION GUIDE.

PURPOSE: To present the case of a patient who developed bleb-related endophthalmitis after an intravitreal injection using the InVitria injection guide, alongside a review of the literature on bleb-related endophthalmitis. METHODS: Our case is presented in context of the current literature on bleb-related endophthalmitis. RESULTS: Bleb-related endophthalmitis occurs in up to 2% of eyes within 5 years of filtering glaucoma surgery. Risk factors include bleb leakage, use of anti-fibrinolytic agents, blepharitis, hypotony, and nasolacrimal duct obstruction. Our patient presented with a bleb leak and bleb-related endophthalmitis 2 weeks after an intravitreal injection using the InVitria injection guide. CONCLUSION: Injection guides can cause bleb trauma and resulting bleb leakage. They should be avoided in patients with filtering glaucoma surgery.

The role of intracranial pressure in glaucoma and therapeutic implications.

Despite glaucoma being the second leading cause of blindness globally, its pathogenesis remains incompletely understood. Although intraocular pressure (IOP) contributes to glaucoma, and reducing IOP slows progress of the disease, some patients progress despite normal IOP (NTG). Glaucomatous damage causes characteristic cupping of the optic nerve where it passes through the lamina cribrosa. There is evidence that cerebrospinal fluid (CSF) within the optic nerve sheath has a different composition from CSF surrounding the brain. Furthermore, fluctuations in CSF flow into the optic nerve sheath may be reduced by trabeculae within the sheath, and on standing intracranial pressure (ICP) within the sheath is stabilised at around 3 mmHg due to orbital pressure. Blood pressure has been linked both to glaucoma and ICP. These facts have led some to conclude that ICP does not play a role in glaucoma. However, according to stress formulae and Laplace's Law, stress within the lamina cribrosa is dependent on the forces on either side of it, (IOP and ICP), and its thickness. On lying flat at night, ICP between the brain and optic nerve sheath should equalise. Most evidence suggests ICP is lower in glaucoma than in control groups, and that the lamina cribrosa is thinner and more posteriorly displaced in glaucoma. Subjects who have had ICP reduced have developed signs of glaucoma. This review finds most evidence supports a role for low ICP in the pathogenesis of glaucoma. Caffeine, theophylline and vitamin A may increase ICP, and could be new candidates for an oral treatment.

Goblet cell appendiceal tumors--management dilemmas and long-term outcomes.

BACKGROUND: Appendiceal Goblet cell tumors (GCTs) are clinically more aggressive, and have a worse outcome than midgut neuroendocrine tumors (mNETs). Guidelines for management of GCTs are limited. METHODS: A retrospective case-study analysis was performed in patients with a diagnosis of GCT, confirmed on histological review. Patients were evaluated clinically, biochemically, and radiologically. RESULTS: 48 patients were identified (TNM stage I-II: 27, stage III: 15, stage IV: 6). Median follow-up was 44 months and was complete in all patients. 68.8% presented with acute appendicitis. 44/48 patients had initial appendectomy, followed by prophylactic right hemicolectomy in 41. 10/48 patients had recurrent disease [median time to recurrence 28 months (range 4-159)]. Of those, 9 received systemic chemotherapy (FOLFOX/FOLFIRI), which was also given in 5/48 patients with disseminated disease at diagnosis. Partial response, stable disease and disease progression was noted in 22%, 22% and 56%, respectively. Adjuvant chemotherapy was also administered in 9/48 patients with stage III disease after right hemicolectomy, however in 3/9 the disease recurred. Median progression/disease-free-survival was 44 months (range 3-159) and overall 5-year survival rate was 41.6%. CONCLUSIONS: The clinical behaviour of GCTs is more similar to colorectal adenocarcinomas than to NETs. A prophylactic right hemicolectomy is recommended to reduce the risk of recurrence. Systemic chemotherapy, using colorectal adenocarcinoma regimens, is indicated for advanced or recurrent disease and has encouraging results. Prospective studies are needed to define the role of adjuvant chemotherapy and the optimal chemotherapy regimen.

Review: Targeting trachoma: Strategies to reduce the leading infectious cause of blindness.

The World Health Organisation (WHO) estimated that in 2002, 1.3 million people were blind due to trachoma, an eye infection caused by Chlamydia trachomatis. This review examines the evidence behind current strategies to reduce the global burden of trachoma. Trachoma disappeared from most western nations before the advent of antibiotics, probably due to improvements in water, sanitation and hygiene. The current effort to target trachoma, headed by the WHO and the Alliance for the Global Elimination of Trachoma by 2020, is called the SAFE (Surgery, Antibiotics, Facial cleanliness and Environmental improvement) strategy. Surgery for trachoma is more cost effective than extra-capsular cataract surgery and can reverse trichiasis (in-growing eyelashes), but needs to be repeated every few years. A single oral dose of azithromycin can eliminate trachoma infection, but cannot be used in infants under 6 months old, and needs to be given every few years in communities with a high prevalence of disease. Improved health education and facial hygiene has been linked to a lower incidence of trachoma, but the evidence is less clear than for surgery and antibiotics. Pit latrines and spraying with permethrin insecticide may reduce the spread of trachoma via eye-seeking flies.

Appendiceal goblet cell carcinoid tumour: a case of unexpected lung metastasis.

Goblet cell carcinoid tumours are often considered a subset of appendiceal neuroendocrine tumours which behave more aggressively. They usually metastasize through transcoelomic/peritoneal invasion and common sites include the ovaries, peritoneum, and liver. Metastases may have goblet cell carcinoid, signet ring cell carcinoma or classic carcinoid histology. We report the first case in the literature of a patient with a goblet cell carcinoid with lung metastasis, which was associated with unfavourable outcome.

What role does the blood brain barrier play in acute mountain sickness?

As high altitude travel increases, acute mountain sickness (AMS) and life threatening high altitude cerebral oedema (HACE) are becoming more prevalent. Acute mountain sickness occurs in 45% of lowlanders above 4250 m. Predisposing factors are still unknown and its development is more complex than the original "tight fit" hypothesis. This review examines evidence relating to a possible role of the blood brain barrier in AMS as suggested by MRI studies. Underlying mechanisms may involve vascular endothelial growth factor and free radicals in addition to increases in hydrostatic pressure. An increased understanding is important in advising patients planning high altitude adventures. Current studies have linked increased blood brain barrier permeability to high altitude cerebral oedema, but the role of the blood brain barrier in acute mountain sickness is less clear; varied symptoms include headache. MRI shows vasogenic oedema occurs in high altitude cerebral oedema, suggesting blood brain barrier permeability increases, and acute mountain sickness typically precedes high altitude cerebral oedema. Hypoxia leads to increased hydrostatic pressure, and blood brain barrier permeability has been shown to increase in stroke patients. Vascular endothelial growth factor is upregulated in hypoxia, and may increase blood brain barrier permeability.