Prospective analysis of emergency ophthalmic referrals in a Canadian tertiary teaching hospital.

OBJECTIVE: This study was conducted to analyze data from emergency ophthalmology referrals after hours from different hospitals to identify the most common pathologies and compare accuracy of diagnoses. Additionally, examination findings, including visual acuity (VA), intraocular pressure (IOP), and pupils from referring service and ophthalmic examination, were compared to assess agreement. DESIGN: This was a prospective study that reviewed information collected from referring services to the emergency on-call ophthalmology service and compared it with ophthalmic examination between February 2017 and July 2017. METHODS: The number of referrals from each hospital was reviewed. Referring physician provisional diagnosis, VA, IOP, and pupil assessment were collected to analyze the agreement between ophthalmic examination and diagnosis. RESULTS: The observed agreement rate was 67.0% between referring source and ophthalmic diagnosis. Posterior vitreous detachment (12.2%) was the most common diagnosis, followed by corneal abrasion (7.4%) and retinal detachment (5.3%). Referring services measured VA to be worse than on-call ophthalmology service (right eye Z = -5.47, p < 0.001; left eye Z = -5.44, p < 0.001), and IOP measurement by referring services was significantly higher (p < 0.05). The observed agreement rate of pupillary assessment was 91% between referring services and ophthalmology services. CONCLUSION: Data suggest that there is moderate agreement for diagnostic category between referring service and ophthalmology examination in regard to provisional diagnosis and pupillary assessment. Both VA and IOP were measured to be higher by referring services. This study highlights common emergency ophthalmic referrals and suggests potential areas for teaching initiatives for primary care physicians assessing ophthalmic emergency patients.

Correlation of novel PAX6 gene abnormalities in aniridia and clinical presentation.

OBJECTIVE: To describe the clinical presentation and genotype of subjects with aniridia with a particular focus on foveal hypoplasia. DESIGN: Prospective cohort study. PARTICIPANTS: Thirty-three Canadian participants with aniridia and of various ethnic backgrounds residing in British Columbia. METHODS: Full ophthalmic examinations and posterior segment spectral domain-optical coherence tomography (SD-OCT) imaging were performed. Foveal hypoplasia was graded independently by 2 staff ophthalmologists. PAX6 sequencing was performed and chromosomal 11p anomalies investigated. Candidate gene and single-nucleotide polymorphism sequencing in genes functionally related to PAX6 were also studied. RESULTS: Best corrected visual acuities in the cohort ranged from 0.0 logMAR to no light perception. Total absence of iris tissue was seen in the majority (42 of 66 eyes). In those in whom SD-OCT was possible, foveal hypoplasia was seen in the majority (45 of 56 eyes, 80%). Molecular genetic defects involving PAX6 were identified in 30 participants (91%), including 4 novel PAX6 mutations (Gly18Val; Ser65ProfsX14; Met337ArgfsX18; Ser321CysfsX34) and 4 novel chromosome 11p deletions inclusive of PAX6 or a known PAX6 regulatory region. CONCLUSIONS: The number of PAX6 mutations associated with aniridia continues to increase. Variable foveal architecture despite nearly identical anterior segment disease in 4 participants with an Ex9 ELP4-Ex4 DCDC1 deletion suggested that molecular cues causing variation in disease in the posterior segment differ from those at play in the anterior segment. Results in 3 patients without identifiable PAX6 mutations and a review of the literature suggest that such cases be described as phenocopies rather than actual cases of the syndrome of aniridia.

Correlation in Severity Between Glaucoma and Erectile Dysfunction.

PURPOSE: To examine the association between open-angle glaucoma and erectile dysfunction (ED), and investigate the correlation in severity between these 2 conditions. METHODS: Cross-sectional study with patient questionnaire and retrospective chart review. A total of 167 male patients over 40 years of age who attended ophthalmology clinic visits in Vancouver, British Columbia, Canada, participated in the study by providing written consent and responding to the survey. Patients with previous radiation or surgical prostate treatment were excluded, leaving final sample sizes of 61 glaucoma patients and 67 control patients. Presence and severity of ED was determined using a validated patient questionnaire (the International Index of Erectile Function questionnaire). Presence of glaucoma was based on previous clinical diagnosis, and severity was graded based on visual field index using a 30-2 visual field test with the SITA Standard protocol. Bivariate analysis examined the presence of ED in glaucoma patients versus controls. Risk factors including dyslipidemia, diabetes, hypertension, and smoking were adjusted for using multiple logistic regression. The association between glaucoma and ED severity was assessed with correlation and scatterplot analysis. RESULTS: Glaucoma was found to be a significant risk factor for ED in our population, with an odds ratio of 2.58 (95% confidence interval, 1.15-5.83). Severity of glaucoma and ED were significantly correlated (r=0.365, P=0.007). CONCLUSIONS: Our results demonstrate that there is a positive association between the presence of ED and the diagnosis of glaucoma and a positive association between the severity of ED and the severity of glaucoma.

Acute Macular Neuroretinopathy Associated With Chikungunya Fever.

A 47-year-old man with recent travel to the Caribbean was admitted with acute febrileillness associated with arthralgia and skin rash followed by sudden onset of bilateral visual field defects. Funduscopy revealed subtle bilateral paracentral dark lesions nasal to the fovea best seen on near infrared imaging as hyporeflective, wedge-shaped, paracentral macular lesions. Spectral-domain optical coherence tomography (SD-OCT) through the lesions revealed hyperreflective bands at the level of the outer plexiform layer and outer nuclear layer (ONL), with concomitant attenuation of the underlying external limiting membrane (ELM), ellipsoid zone (EZ), and interdigitation zone (IZ). Neither fluorescein angiography nor speckle variance OCT angiography (sv-OCTA) showed any defects in retinal circulation. Work up revealed positive Immunoglobulin M for Chikungunya virus (CHIKV). Six months later, the patient had persistent scotomas, although reduced in size. SD-OCT showed subtle ONL thinning and restoration of the ELM, although EZ and IZ remained disrupted. Chikungunya fever may manifest as bilateral acute macular neuroretinopathy (AMN). Clinicians should be aware of possible systemic associations of AMN. [Ophthalmic Surg Lasers Imaging Retina. 2016;47:596-599.].

Does an association exist between pseudoexfoliation syndrome and chronic kidney disease?

PURPOSE: To determine whether pseudoexfoliation (PEX) syndrome is associated with an increased risk of chronic kidney disease (CKD). PATIENTS AND METHODS: In this cross-sectional study, 271 consecutive patients were recruited into 3 study groups---PEX syndrome (n=86), primary open-angle glaucoma (POAG) (n=91), and nonglaucoma controls (n=94)---and underwent serum creatinine testing to determine their glomerular filtration rates (eGFR). Repeat eGFR and testing for urine albumin:creatinine ratio were performed a minimum of 3 months later if the initial eGFR was less than 60 mL/min/1.73 m. CKD was diagnosed if both eGFR levels were less than 45 mL/min/1.73 m or both eGFR levels were less than 60 mL/min/1.73 m and the urine albumin:creatinine ratio was greater than 2.0. The main outcome measure was the rate of CKD for each group. RESULTS: The CKD rate for the control group (11.7%, 11 of 94) was statistically higher than the PEX (3.5%, 3 of 86, P=0.050) and the POAG (3.3%, 3 of 91, P=0.049) groups. However, there was a significantly higher rate of diabetes mellitus, a known risk factor for CKD, in the control group than the PEX and POAG groups. After adjusting for the differences in the rate of diabetes mellitus and mean age (another risk factor for CKD) between groups, a multivariate logistic regression analysis showed that none of the study groups was a predictor of an increased rate of CKD. A post-hoc analysis performed with all patients with diabetes mellitus removed also showed no statistical difference between groups for CKD rates and mean eGFR levels. CONCLUSIONS: Compared with age-matched patients with POAG and nonglaucoma controls, PEX syndrome was not found to be associated with an increased prevalence of CKD.

Helicobacter pylori infection and the risk for open-angle glaucoma.

PURPOSE: To determine the frequency of exposure to Helicobacter pylori infection in glaucoma patients. DESIGN: Prospective case-control study. PARTICIPANTS: Ninety-seven consecutive patients attending a glaucoma clinic. These included 38 patients with primary open-angle glaucoma (POAG), 19 with normal pressure glaucoma (NPG), 16 with pseudoexfoliation glaucoma (PXE), and 24 with ocular hypertension (OHT). Ninety-four age-matched participants without glaucoma served as a control population. METHODS: Serum was analyzed for the presence of H. pylori-specific immunoglobulin G antibodies by enzyme-linked immunosorbent assay. MAIN OUTCOME MEASURES: Serologic analysis for H. pylori. RESULTS: Seropositivity for H. pylori was higher in patients with glaucoma (26.0%) than in controls (20.2%), but this did not achieve statistical significance (P = 0.46). A total of 26.3% of POAG patients, 26.3% of NPG patients, 25.0% of PXE patients, and 25.0% of OHT patients were seropositive. CONCLUSIONS: This study suggests that exposure to H. pylori infection is not associated with open-angle glaucoma.