Longitudinal study on ocular manifestations in a cohort of patients with Fabry disease

Purpose This study aims to assess the evolution of ocular manifestations in a cohort of Fabry patients. Methods This is a prospective observational study conducted from 2013 to 2017 (5 consecutive exams). All subjects underwent a comprehensive ocular examination including oriented case history, refraction, corneal topography, biomechanical corneal properties and pachometry assessments, aberrometry, anterior segment evaluation, double-frequency visual field (FDT), intra-ocular pressure, and ocular fundus. At baseline, 41 subjects enrolled but 9 dropped-out and 4 files were not kept for analysis (missing data). Remaining 28 subjects were classified into: Group 1 -hemizygotes (HMZ), all on enzyme replacement therapy (ERT) (N = 10); Group 2 -heterozygotes (HTZ) actively ERT-treated (N = 8), and Group 3 -HTZ not treated (N = 10). Results There is a high intra and inter-subjects variability. At baseline, prevalence of the ocular manifestations found is similar to published data: cornea verticillata (89.2%), conjunctival vessels tortuosity (85.7%), corneal haze (67.8%), retinal vessels tortuosity (64.2%), anterior cataract (39.2%) and posterior cataract (28.5%). Prevalence for new elements are found: upper lid vessels toricity (96.4%) and micro-aneurysms (42.8%). At the end, micro-aneurysms (+82%), posterior cataract (+75%) corneal haze (+21%) anterior cataract (+17%) and retinal vessels tortuosities (+4%) evolved in prevalence and severity despite the fact that 68% of the patients were on ERT. Treated heterozygotes evolved more than other groups (p>0.05). Conclusion ERT does not seem to halt the clinical evolution of several ocular manifestations. Longer observational time and objective grading systems may be required to fully confirm these findings

Prevalence of asymptomatic ocular conditions in subjects with refractive-based symptoms

AbstractBackgroundThis study aims to determine the overall prevalence of ocular conditions in a population from 19 to 64 years old, presenting with refractive-based symptoms only. Results could impact clinical standard of eye care on a similar population.MethodsThis is a retrospective study on patients seen for an eye examination at the Clinique Universitaire de la Vision (CUV), between January 2007 and 2009. Files of individuals who presented with refractive symptoms were only selected and classified by file number. Then, every third file from the beginning was kept and reviewed by a reader. A second reader did the same with every third file from the end. Both readers were trained to use the same analysis grid to classify the diagnosed ocular conditions. In the case of multiple findings, the most severe condition was considered. The overall prevalence of ocular conditions was determined by calculating their occurrence divided by the number of files analyzed.ResultsA total of 860 charts were analyzed. In 26.1% of the cases an ocular condition was diagnosed. This work establishes a higher prevalence of ocular conditions compared to another study conducted in Canada in the past. This difference can be explained by a different analytical methodology and by the fact that all examinations, in this study, were made under pupillary dilation.ConclusionThe presence of ocular conditions in 26% of asymptomatic patients supports the need to assess ocular health under pupil dilation as part of any eye examination. However, further cost-to-benefit analysis is required before establishing such a recommendation

Influence of the scleral lens and fluid reservoir thicknesses on residual astigmatism

Purpose This study aims to determine if lens or tear fluid reservoir thicknesses (LT/FRT) may influence the presence of residual astigmatism and participant’s visual acuity. Methods The study was a randomized, non-dispensing, prospective study. Empirically and randomly chosen participants were fitted with 4 combinations (350 and 250 um LT fitted with 250 and 350 um FRT) of 16 mm diameter scleral lenses, designed using a corneo-scleral profiler software (sMap 3D, Visionary Optics, US). Lenses haptics were kept spherical for all lenses. They were evaluated under a slit lamp, anterior segement OCT (objective fluid reservoir and lens thicknesses), topography over lenses and aberrometry, after 30 minutes of lens wear. Spherico-cylindrical refraction and logMar acuity were also assessed. Results Study population was composed of 24 participants aged 24.2 + 4.7 years old. Baseline refractive error was -2.3 + 1.6 D with -0.48 + 0.26 D of astigmatism. In vivo (OCT) lens A was 344.1 ± 15.4 um thick, fitted with a vault of 213.6 ± 42.4 um; Lens B was 346.2 ± 12.5/327.2 ± 44.8; Lens C was 260.3 ± 17.7/214.0 ± 40.6 um and Lens D was 262.2 ±13.2/330.8 ± 52.0 respectively. All lenses were found similarly decentered inferiorly by 0.10 to 0.15 um. BCVA was −0.32 + 0.08 (A), −0.21 + 0.10 (B), −0.28 + 0.08 (C), and −0.14 + 0.10 (D), compared to −0.25 + 0.08 (A), −0.11 + 0.10 (B), −0.23 + 0.06 (C), and −0.05 + 0.12 (D) when sphere only was compensated. Residual refractive astigmatism (RA = -0.50 to -0.75D) is found significantly higher based on the FRT (F=9.560; p=0.037) and not LT(F=0.429; p=0.522). There is no correlation between RA and over-k readings (Lens A r=-0.078, p=0.773; Lens B r=−0.073, p=0.788; Lens C r=−0.345, p=0.171; Lend D r=0.019, p=0.944). Higher order aberrations, mostly vertical coma, were found clinically significant but not statistically different between lenses (A= 0.350 + 0.032; B=0.382 + 0.053, C=0.329 + 0.044 and D=0.385+ 0.062; p=0.776) Conclusion This study proves that low level of RA may be found when scleral lenses are fitted on normal corneas. Its occurrence is related to the presence of high-order aberrations and less likely to lens flexure

Improved ways to screen for patients with Fabry disease, involving optometry in a multidisciplinary approach

Purpose: Fabry disease is considered a rare disease, based on its prevalence. It is recognized, however, that there are many individuals aff ected who are unscreened. This article aims to demonstrate how optometrists can help to defi ne improved ways to screen patients aff ected by this rare metabolic disorder, in a multidisciplinary perspective. Methods: A screening model, based on continuous education for optometrists was developed. Under this model, suspect patients identifi ed by optometrists are referred to Université de Montréal's vision clinic (EOUM) for further testing and assessment. Should ocular manifestations and/or case history prove relevant to these rare diseases, a urinary test is then performed to fi nd related biomarkers. When suspicions narrow to probable Fabry disease, the subjects are referred to metabolic disorder specialists for complete DNA testing and medical follow-up of their condition. Results: Continuous education lectures were given across Quebec, reaching nearly 60% of the province’s optometrists. Sixteen months following the model's implementation, ten suspected patients were referred. Of these, two new Fabry patients were confi rmed, leading to the diagnosis of fi ve other relatives with the disease. Two additional persons, diagnosed as Fabry patients, but lost to medical follow-up for many years, were once again placed under the care of Fabry experts. To this point, because of optometric involvement, seven new patients of Fabry were diagnosed and two were brought back under experts care.  Conclusion: Continuous education lectures were given across Quebec, reaching near 60% of the province’s optometrists. Sixteen months following the model's implementation, ten suspected patients were referred. Of these, two new Fabry patients were confi rmed, leading to the diagnosis of fi ve other relatives with the disease. Two additional persons, diagnosed as Fabry patients, but lost to medical follow-up for many years, were once again placed under the care of Fabry experts. To this point, because of optometric involvement, seven new patients of Fabry were diagnosed and two were brought back under experts care

Overview of the Main Types of Contact Lenses for Aphakic Children Under 5

Contact lenses are often the first choice for visual correction of aphakic children. There are several types of lens that can successfully be fitted to correct ametropia, stimulate visual selecting, and maintain ocular health. Several factors are important for choosing the type of lens. Usually, the first lens fitted is made of silicone (Elasofilcon A, Bausch & Lomb, Rochester, Ny) with an evolution to a custom silicone hydrogel lens over time. Although fitting in young aphakic children presents many challenges, contact lenses often remain the best option for the correction of refractive errors after congenital cataract surgery. An overview of the main types of contact lens available for aphakic children and their characteristics are presented

Survol des principaux types de lentilles cornéennes chez les enfants aphaques âgés de moins de 5 ans

L’ajustement en lentille cornéenne est souvent le premier choix pour la correction visuelle des enfants aphaques. Il existe plusieurs types de lentilles qui peuvent être ajustées avec succès pour corriger l’amétropie, stimuler adéquatement le développement visuel, mais également préserver la santé oculaire. Plusieurs facteurs sont déterminants pour le choix du type de lentille. Habituellement, la lentille initialement ajustée est en silicone élastofilcon A (Silsoft; Bausch & Lomb, Rochester, ny) avec une migration vers une lentille silicone hydrogel sur mesure avec le temps. Bien que l’ajustement chez les jeunes enfants aphaques présente de nombreux défis, les lentilles cornéennes demeurent souvent l’option de choix de la correction des amétropies après une chirurgie de cataracte congénitale. Un survol des principaux types de lentilles cornéennes disponibles pour les enfants aphaques ainsi que leurs caractéristiques sera présenté

Effects of Scleral-lens Tear Clearance on Corneal Edema and Post-lens Tear Dynamics: A Pilot Study.

SignificanceThe present study with small-diameter scleral lenses (SLs) revealed that post-lens tear thickness (PoLTT) was significantly associated with post-lens tear mixing, but not with central corneal edema, after short-term SL wear.PurposeThe aim of this study was to investigate the influence of SL tear clearance (PoLTT) on central corneal thickness and post-lens tear dynamics during 5-hour lens wear.MethodsNeophytes with no active ocular disease were fitted bilaterally with SLs (hofocon A; 15.6-mm diameter; ~438-μm thickness; 97 Dk; 1.44 refractive index) with various initial PoLTT values ranging from 74 to 543 μm. Central corneal thickness and PoLTT were measured using optical coherence tomography during lens wear. Tear mixing was assessed using fluorogram and "out-in" method.ResultsThe mean central corneal edema after 5-hour lens wear was 1.51% (95% confidence interval, 1.26 to 1.76%; P < .001), reached its peak at 2-hour post-lens insertion (1.65% [95% confidence interval, 1.45 to 1.85%]), and was independent of PoLTT. The fastest fluorescence decay of the post-lens tear film was observed superiorly. The fluorescence decay rate increased from center to periphery in all quadrants except superiorly. An inverse relationship was found between PoLTT and fluorescence decay rate at both 20-minute and 5-hour wear after lens insertion (P < .05). Excluding observations with out-in time exceeding 5 minutes, we found a direct relationship between PoLTT at 20 minutes after lens insertion and out-in time (P = .047). The % change in the PoLTT after 5-hour wear was greater with a thinner initial tear clearance than those with a thicker one (P = .034).ConclusionsWithin our study parameters, a thinner PoLTT under a small-diameter SL was associated with faster PoLTT mixing. However, there was no relationship between PoLTT and central corneal thickness during 5-hour SL wear

Life After AREDS 2: What Should We Recommend to Patients With or at Risk of AMD?

Purpose: To establish a consensus on clinical recommendation of oral supplementation for patients with or at risk of developing age-related macular degeneration (AmD), from the perspective of the Age-Related eye Disease Study 2 (AReDS 2) and other studies. Methods: Panel discussion based on a literature review of pertinent articles related to the prevention of AmD with oral supplementation. Results: on the basis of the findings, patients must first be encouraged to modify their diet and to eliminate modifiable risk factors before being recommended any type of oral supplementation. Then, recommendations must be customized on the basis of a patient’s individual risk profile (i.e., age, gender, heredity, etc.) and severity of disease (i.e., category 1 to 4). essential fatty acids (omega-3s) and vitamins may play a role, in a given clinical population, to prevent the occurrence or the progression of AmD disease. However, there is no single formula that can be applied to all patients with or at risk of AmD. Conclusions: This group concluded that the full body of literature must be taken into consideration in order to justify clinical recommendations for patients. A single study such as AReDS 2 cannot, by itself, guide clinical practice. In all cases, recommendations must be individualized and patients should be monitored regularly

Dry Eye Diseases and Ocular Surgery: Practical Guidelines for Canadian Eye Care Practitioners

In 2014, the Canadian Dry Eye Disease Consensus Panel published Guidelines for screening, diagnosis and management of dry eye diseases (DED). These did not address the implications of DED for individuals who are being considered for or have recently undergone ocular surgery. DED is common in certain surgical cohorts, and the perisurgical setting poses specific challenges, both because surgery can complicate preexisting DED and because symptomatic and non-symptomatic DED place the patient at risk of poor surgical outcomes. The Consensus Panel has developed this Addendum to the 2014 Guidelines to offer guidance on DED care before and after ocular surgery