A case of human intraocular dirofilariasis is reported from northern Brazil. The nematode was morphologically and phylogenetically related to Dirofilaria immitis but distinct from reference sequences, including those of D. immitis infesting dogs in the same area. A zoonotic Dirofilaria species infesting wild mammals in Brazil and its implications are discussed.

Background To investigate structural and functional correlations in glaucoma patients using enhanced depth imaging spectral-domain optical coherence tomography (EDI OCT)-derived parameters. Methods We prospectively enrolled healthy participants and glaucomatous patients with a wide range of disease stages. All participants underwent visual field (VF) testing (SITA - Standard 24–2; Carl Zeiss Meditec, Dublin, CA) and EDI OCT imaging (Spectralis; Heidelberg Engineering Co., Heidelberg, Germany). The following optic nerve head parameters were measured on serial vertical EDI OCT B-scans by two experienced examiners masked to patients clinical data: lamina cribrosa (LC) thickness and area, prelaminar neural tissue thickness and area, anterior LC depth, Bruch’s membrane opening (BMO) and average, superior, and inferior BMO-minimum rim width (BMO-MRW). Only good quality images were considered, and whenever both eyes were eligible, one was randomly selected for analysis. Scatter plots were constructed to investigate correlations between each anatomic parameter and patient’s VF status (based on VF index [VFI] values). Results A total of 73 eyes of 73 patients were included. All EDI OCT parameters evaluated differed significantly between glaucomatous and control eyes ( P ≤ 0.045). A secondary analysis, in which glaucomatous patients were divided according to VF mean deviation index values into 3 groups (mild [G1; > − 6 dB], moderate [G2; − 6 to − 12 dB] and advanced [G3; <− 12 dB] glaucoma), revealed that average BMO-MRW was the EDI OCT parameter that presented more significant differences between the different stages of glaucoma. Significant structure-function correlations were found between VFI values and prelaminar neural tissue area (R 2 = 0.20, P = 0.017), average BMO-MRW (R 2 = 0.35, P ≤ 0.001), superior BMO-MRW (R 2 = 0.21, P = 0.012), and inferior BMO-MRW (R 2 = 0.27, P = 0.002). No significant correlations were found for LC area and anterior LC depth ( P ≥ 0.452). Conclusions Evaluating the distribution pattern and structure-function correlations of different laminar and prelaminar EDI OCT-derived parameters in glaucomatous patients, we found better results for neural tissue-based indexes (compared to LC-derived parameters). The diagnostic utility of each parameter deserves further investigations. Electronic supplementary material The online version of this article (10.1186/s12886-019-1054-9) contains supplementary material, which is available to authorized users.

BackgroundSingleton-Merten syndrome (SGMRT) is a rare immunogenetic disorder that variably features juvenile open-angle glaucoma (JOAG), psoriasiform skin rash, aortic calcifications and skeletal and dental dysplasia. Few families have been described and the genotypic and phenotypic spectrum is poorly defined, with variants in DDX58 (DExD/H-box helicase 58) being one of two identified causes, classified as SGMRT2.MethodsFamilies underwent deep systemic phenotyping and exome sequencing. Functional characterisation with in vitro luciferase assays and in vivo interferon signature using bulk and single cell RNA sequencing was performed.ResultsWe have identified a novel DDX58 variant c.1529A>T p.(Glu510Val) that segregates with disease in two families with SGMRT2. Patients in these families have widely variable phenotypic features and different ethnic background, with some being severely affected by systemic features and others solely with glaucoma. JOAG was present in all individuals affected with the syndrome. Furthermore, detailed evaluation of skin rash in one patient revealed sparse inflammatory infiltrates in a unique distribution. Functional analysis showed that the DDX58 variant is a dominant gain-of-function activator of interferon pathways in the absence of exogenous RNA ligands. Single cell RNA sequencing of patient lesional skin revealed a cellular activation of interferon-stimulated gene expression in keratinocytes and fibroblasts but not in neighbouring healthy skin.ConclusionsThese results expand the genotypic spectrum of DDX58-associated disease, provide the first detailed description of ocular and dermatological phenotypes, expand our understanding of the molecular pathogenesis of this condition and provide a platform for testing response to therapy.

A male nematode was extracted from iris fibers of a man from the Brazilian Amazon region. This nematode belonged to the genus Pelecitus but was distinct from the 16 known species in this genus. Similarities with Pelecitus spp. from neotropical birds suggested an avian origin for this species.

Structural differences between optic nerve head (ONH) parameters in glaucomatous and non-glaucomatous eyes has been documented, however the association between such parameters in patients with different disease stages is yet to be elucidated. We investigated the relationship between different laminar and prelaminar ONH structures using enhanced depth imaging spectral-domain optical coherence tomography (EDI OCT) in a population with and without glaucoma. In this observational case-control study, we prospectively enrolled healthy individuals and glaucomatous patients with different disease stages. All participants underwent EDI OCT imaging (Heidelberg Engineering). Following ONH parameters were measured on serial vertical B-scans by two examiners masked to patient’s clinical data: lamina cribrosa (LC) and prelaminar neural tissue (PLNT) thicknesses, Bruch’s membrane opening (BMO) and cup depth. Associations between cup depth, and laminar and prelaminar parameters were evaluated controlling for possible confounding factors such as axial length and disc size. Sixty-four eyes of 64 patients were included (30 with glaucoma and 34 controls). Eyes with glaucoma had significantly lower mean LC and PLNT thickness, and greater mean cup depth than controls (p<0.01). There was a significant negative association between PLNT thickness and cup depth in glaucomatous eyes (R2 = 0.158, p = 0.029). In addition, LC thickness correlated significantly with cup depth (R2 = 0.135, p = 0.045). Eyes with thinner LCs presented deeper cups. Overall, cup depth and BMO had the best and LC thickness had the worst intraobserver and interobserver reproducibility grading. In conclusion, significant associations were seen between cup depth, LC and PLNT thickness. Eyes with deeper cups not only had less neural tissue, but also thinner LCs, independent of disc size and axial length. Best reproducibility was found for prelaminar parameters compared to deeper ONH structures.