Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management

Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of sporadic cases. Childhood glaucoma is classified in primary and secondary congenital glaucoma, further divided as glaucoma arising in dysgenesis associated with neural crest anomalies, phakomatoses, metabolic disorders, mitotic diseases, congenital disorders, and acquired conditions. Neural crest alterations lead to the wide spectrum of iridocorneal trabeculodysgenesis. Systemic diseases associated with childhood glaucoma include the heterogenous group of phakomatoses where glaucoma is frequently encountered in the Sturge-Weber syndrome and its variants, in phakomatosis pigmentovascularis associated with oculodermal melanocytosis, and more rarely in neurofibromatosis type 1. Childhood glaucoma is also described in systemic disorders of mitotic and metabolic activity. Acquired secondary glaucoma has been associated with uveitis, trauma, drugs, and neoplastic diseases. A database research revealed reports of childhood glaucoma in rare diseases, which do not include glaucoma in their manifestation. These are otopalatodigital syndrome, complete androgen insensitivity, pseudotrisomy 13, Brachmann-de Lange syndrome, acrofrontofacionasal dysostosis, caudal regression syndrome, and Wolf-Hirschhorn syndrome

Intravitreal injection of Ozurdex(®) implant in patients with persistent diabetic macular edema, with six-month follow-up

AIM: To evaluate the efficacy of intravitreal dexamethasone injections in diabetic macular edema (DME). METHODS: A 700 μg slow-release intravitreal dexamethasone implant (Ozurdex®) was placed in the vitreal cavity of 17 patients (19 eyes) affected with persistent DME. Best corrected visual acuity (BCVA) was assessed through Early Treatment Diabetic Retinopathy Study (ETDRS). Central macular thickness (CMT) was measured by spectral-domain optical coherence tomography. BCVA and CMT examinations were carried out at baseline (T0) and repeated after three days, one month (T1), three months (T3), four months (T4), and six months (T6) post injection. RESULTS: Dexamethasone implant induced an improvement in ETDRS at T1, T3, T4, and T6 post injection. CMT was reduced at T1, T3, and T4, while at T6, CMT values were not statistically different from baseline. No complications were observed during the follow-up. CONCLUSION: Our data suggest that dexamethasone implant is effective in reducing DME symptoms within a six-month frame

Investigational drugs in dry eye disease

Introduction: The dry eye disease (DED) is a chronic multifactorial disorder of the tears that also involves the ocular surface, the lacrimal glands, and meibomian dysfunction. Furthermore, DED is often associated with Sjögren's syndrome (SS) and other autoimmune disorders. Sometimes, this chronic or subclinical condition is difficult to diagnose and treat, due to its heterogeneity. Areas covered: A literature search of relevant publications about treatment of DED was performed. All relevant articles published between 2011 and 2016 were identified through a computerized search for reviews and clinical trials using the Pub Med database. In particular, investigational treatments have been reported in this peer-reviewed publication. Relevant articles identified were manually searched and reviewed, then data concerning with novel treatment for DED were included into the manuscript. Expert opinion: The treatment of dry eye patients evolves continuously because DED seriously impacts the quality of life of older adults. Indeed, as a chronic disease, DED prevalence is expected to worsen with the aging population. For this reason, current efforts focus on combined pharmacological strategies targeted towards multiple systems. Probably this is the correct way to reach a long lasting symptoms relief treatment that may allow an actual improvement of patients' quality of life

Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management

Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of sporadic cases. Childhood glaucoma is classified in primary and secondary congenital glaucoma, further divided as glaucoma arising in dysgenesis associated with neural crest anomalies, phakomatoses, metabolic disorders, mitotic diseases, congenital disorders, and acquired conditions. Neural crest alterations lead to the wide spectrum of iridocorneal trabeculodysgenesis. Systemic diseases associated with childhood glaucoma include the heterogenous group of phakomatoses where glaucoma is frequently encountered in the Sturge-Weber syndrome and its variants, in phakomatosis pigmentovascularis associated with oculodermal melanocytosis, and more rarely in neurofibromatosis type 1. Childhood glaucoma is also described in systemic disorders of mitotic and metabolic activity. Acquired secondary glaucoma has been associated with uveitis, trauma, drugs, and neoplastic diseases. A database research revealed reports of childhood glaucoma in rare diseases, which do not include glaucoma in their manifestation. These are otopalatodigital syndrome, complete androgen insensitivity, pseudotrisomy 13, Brachmann-de Lange syndrome, acrofrontofacionasal dysostosis, caudal regression syndrome, and Wolf-Hirschhorn syndrome

Comparison of short-term choroidal thickness and retinal morphological changes after intravitreal anti-VEGF therapy with ranibizumab or aflibercept in treatment-naive eyes

PURPOSE: To evaluate choroidal thickness (CT) and retinal morphological changes in eyes with neovascular age-related macular degeneration (nAMD) following ranibizumab or aflibercept intravitreal treatment. MATERIALS AND METHODS: This was a prospective, observational, comparative study where 76 eyes of 76 consecutive patients with treatment-naive nAMD were consecutively enrolled and randomized to ranibizumab 0.5 mg or aflibercept 2 mg injections. Spectral-domain optical coherence tomography images of the choroid were obtained by enhanced depth imaging modality. CT measurements were made of the subfoveal choroid, and at 500 μm from the center of the fovea in the superior, inferior, temporal, and nasal quadrants. Central subfield retinal thickness, intraretinal fluid, subretinal fluid, and pigment epithelium detachment were evaluated. Patients were followed up for 3 months. RESULTS: Compared with baseline, CT decreased over time in both the ranibizumab and aflibercept group (P = 0.04 and 0.001, respectively). At each location, the decrease in CT was significantly more prominent in aflibercept with respect to ranibizumab-treated eyes (P < 0.05). Among the different choroidal neovascularization subtypes, type 3 lesions showed the greatest CT decrease after anti-vascular endothelial growth factor injections (P = 0.003). Choroidal thinning was significantly greater in type 3 lesions treated with aflibercept compared with ranibizumab (F = 13.6, P = 0.002). Post-treatment incidence of dry macula was higher in aflibercept- versus ranibizumab-treated eyes (50% vs. 76%, P = 0.03). CONCLUSIONS: CT reduction is greater in aflibercept-treated eyes, and type 3 lesions show the greatest thickness decrease. The post-treatment frequency of dry macula, evaluated by qualitative parameters, is higher in aflibercept-treated eyes, but is not correlated with CT change

Le Petit Vouzinois : journal républicain des Ardennes

12 juillet 18841884/07/12 (N489)-1884/07/12.Appartient à l’ensemble documentaire : ChArdenn

Interrater agreement between the senior rater and any other rater (Overall Agreement) or each of three other raters (Ophthalmology resident, Ophthalmologist, Pharmacology researcher).

<p>The joint judgement is presented as Positive Reporting.</p

Comments on main patterns of agreement or disagreement for each STARD 2015 item.

<p>Positive Reporting and Overall agreement, as presented in <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0186209#pone.0186209.t001" target="_blank">Table 1</a>, are also shown for clarity.</p

Diagnostic accuracy research in glaucoma is still incompletely reported: An application of Standards for Reporting of Diagnostic Accuracy Studies (STARD) 2015

<div><p>Background</p><p>Research has shown a modest adherence of diagnostic test accuracy (DTA) studies in glaucoma to the Standards for Reporting of Diagnostic Accuracy Studies (STARD). We have applied the updated 30-item STARD 2015 checklist to a set of studies included in a Cochrane DTA systematic review of imaging tools for diagnosing manifest glaucoma.</p><p>Methods</p><p>Three pairs of reviewers, including one senior reviewer who assessed all studies, independently checked the adherence of each study to STARD 2015. Adherence was analyzed on an individual-item basis. Logistic regression was used to evaluate the effect of publication year and impact factor on adherence.</p><p>Results</p><p>We included 106 DTA studies, published between 2003–2014 in journals with a median impact factor of 2.6. Overall adherence was 54.1% for 3,286 individual rating across 31 items, with a mean of 16.8 (SD: 3.1; range 8–23) items per study. Large variability in adherence to reporting standards was detected across individual STARD 2015 items, ranging from 0 to 100%. Nine items (1: identification as diagnostic accuracy study in title/abstract; 6: eligibility criteria; 10: index test (a) and reference standard (b) definition; 12: cut-off definitions for index test (a) and reference standard (b); 14: estimation of diagnostic accuracy measures; 21a: severity spectrum of diseased; 23: cross-tabulation of the index and reference standard results) were adequately reported in more than 90% of the studies. Conversely, 10 items (3: scientific and clinical background of the index test; 11: rationale for the reference standard; 13b: blinding of index test results; 17: analyses of variability; 18; sample size calculation; 19: study flow diagram; 20: baseline characteristics of participants; 28: registration number and registry; 29: availability of study protocol; 30: sources of funding) were adequately reported in less than 30% of the studies. Only four items showed a statistically significant improvement over time: missing data (16), baseline characteristics of participants (20), estimates of diagnostic accuracy (24) and sources of funding (30).</p><p>Conclusions</p><p>Adherence to STARD 2015 among DTA studies in glaucoma research is incomplete, and only modestly increasing over time.</p></div

Compliance with STARD 2015 of the included studies with an explanation of the main patterns.

<p>Compliance with STARD 2015 of the included studies with an explanation of the main patterns.</p