Facilitated introgression from domestic goat into Alpine ibex at immune loci.

Hybridization can result in the transfer of adaptive genetic material from one species to another, known as adaptive introgression. Bottlenecked (and hence genetically depleted) species are expected to be particularly receptive to adaptive introgression, since introgression can introduce new or previously lost adaptive genetic variation. The Alpine ibex (Capra ibex), which recently recovered from near extinction, is known to hybridize with the domestic goat (Capra aegagrus hircus), and signals of introgression previously found at the major histocompatibility complex were suggested to potentially be adaptive. Here, we combine two ancient whole genomes of Alpine ibex with 29 modern Alpine ibex genomes and 31 genomes representing six related Capra species to investigate the genome-wide patterns of introgression and confirm the potential relevance of immune loci. We identified low rates of admixture in modern Alpine ibex through various F statistics and screening for putative introgressed tracts. Further results based on demographic modelling were consistent with introgression to have occurred during the last 300 years, coinciding with the known species bottleneck, and that in each generation, 1-2 out of 100 Alpine ibex had a domestic goat parent. The putatively introgressed haplotypes were enriched at immune-related genes, where the adaptive value of alternative alleles may give individuals with otherwise depleted genetic diversity a selective advantage. While interbreeding with domestic species is a prevalent issue in species conservation, in this specific case, it resulted in putative adaptive introgression. Our findings highlight the complex interplay between hybridization, adaptive evolution, and the potential risks and benefits associated with anthropogenic influences on wild species.

Ancient mitochondrial and modern whole genomes unravel massive genetic diversity loss during near extinction of Alpine ibex.

Population bottlenecks can have dramatic consequences for the health and long-term survival of a species. Understanding of historic population size and standing genetic variation prior to a contraction allows estimating the impact of a bottleneck on the species' genetic diversity. Although historic population sizes can be modelled based on extant genomics, uncertainty is high for the last 10-20 millenia. Hence, integrating ancient genomes provides a powerful complement to retrace the evolution of genetic diversity through population fluctuations. Here, we recover 15 high-quality mitogenomes of the once nearly extinct Alpine ibex spanning 8601 BP to 1919 CE and combine these with 60 published modern whole genomes. Coalescent demography simulations based on modern whole genomes indicate population fluctuations coinciding with the last major glaciation period. Using our ancient and historic mitogenomes, we investigate the more recent demographic history of the species and show that mitochondrial haplotype diversity was reduced to a fifth of the prebottleneck diversity with several highly differentiated mitochondrial lineages having coexisted historically. The main collapse of mitochondrial diversity coincides with elevated human population growth during the last 1-2 kya. After recovery, one lineage was spread and nearly fixed across the Alps due to recolonization efforts. Our study highlights that a combined approach integrating genomic data of ancient, historic and extant populations unravels major long-term population fluctuations from the emergence of a species through its near extinction up to the recent past.

PreserFlo MicroShunt® exposure: a case series.

BACKGROUND: PreserFlo® MicroShunt (PM) (also known as InnFocus® MicroShunt) is a subconjunctival stent implanted ab externo via a minimally invasive surgical procedure. The current indication is progressive, mild to moderate, open angle glaucoma uncontrolled on topical medications. According to the literature, adverse events are rare, mild and transient. CASE PRESENTATION: Two cases of stand-alone PreserFlo MicroShunt® implantation in patients with uncontrolled open-angle glaucoma are reported. Exposure occurred 7 days and 3 months respectively after implantation. These cases shared common features including preexisting blepharitis and the lack of a Tenon's flap. In both cases, removal of the device was required after several attempts at repair. CONCLUSIONS: PreserFlo MicroShunt® exposure is a potentially vision-threatening complication because of the risk of endophthalmitis. Potential risk factors include the absence of a Tenon's flap and pre-existing ocular surface inflammation. Ocular surface inflammation should be detected and treated prior to PM implantation. If a deficiency in Tenon's capsule is noted intraoperatively, close monitoring should be performed because of the higher risk of PM exposure.

Efficacy and safety of intraocular folding sutureless scleral fixating lens versus iris-claw intraocular lens implantation.

PURPOSE: To compare the refractive outcomes of sutureless scleral-fixated Carlevale® intraocular lenses versus Artisan® iris-claw-fixated lenses in terms of surgically induced astigmatism. SETTING: We included patients from the Quinze-Vingts National Ophthalmology Hospital, Paris, from August 2020 to December 2020. DESIGN: This was a single-center retrospective study. METHODS: Each patient included had undergone surgery with a sutureless scleral-fixated Carlevale® foldable intraocular lens or an Artisan® iris-claw lens in the context of secondary implantation. Exclusion criteria included a history of retinal detachment or any other retinal disease. We analyzed postoperative refractive data three months after surgery for the Carlevale group and three months after removal of all sutures for the Artisan group. RESULTS: A total of 25 eyes of 25 patients were included in the Carlevale group and 37 eyes of 36 patients in the Artisan group. At three months, the best-corrected visual acuity was not statistically different, at 0.33(±0.35) and 0.32(±0.33) LogMAR, respectively (P=0.99), and surgically induced astigmatism was significantly lower in the Carlevale group, at 0.538 (±0.560) and 2.30 (±3.97) Diopters, respectively (P<0.001). CONCLUSIONS: In this first comparative study, Carlevale® intraocular lenses appear to offer better refractive accuracy and less induced astigmatism than Artisan® iris-claw lenses, without increasing mean surgical time.

Assessing the correlation between swept-source optical coherence tomography lens density pattern analysis and best-corrected visual acuity in patients with cataracts.

OBJECTIVE: To assess linear correlation between swept-source optical coherence tomography (SS-OCT) lens density variation and patients' best-corrected visual acuity (BCVA). METHODS AND ANALYSIS: Linear densitometry was performed on horizontal lens images from 518 eyes, obtained using SS-OCT. All densities from the anterior to the posterior side of the cataract were exported for detailed analysis. The algorithm used a classical random forest regression machine learning approach with fourfold cross-validation, meaning four batches of data from 75% of the eyes with known preoperative best-corrected visual acuity (poBCVA) were used for training a model to predict the data from the remaining 25% of the eyes. The main judgement criterion was the ability of the algorithm to identify linear correlation between measured and predicted BCVA. RESULTS: A significant linear correlation between poBCVA and the algorithm's prediction was found, with Pearson correlation coefficient (R)=0.558 (95% CI: 0.496 to 0.615, p<0.001). Mean BCVA prediction error was 0.0965±0.059 logarithm of the minimal angle of resolution (logMAR), with 312 eyes (58%) having a BCVA prediction correct to ±0.1 logMAR. The best algorithm performances were achieved for 0.20 logMAR, with 79%±0.1 logMAR correct prediction. Mean, anterior cortex, nucleus and posterior cortex pixel density were all not correlated with patient BCVA. CONCLUSION: Pixel density variations based on axial lens images provided by SS-OCT biometer provide reasonably accurate information for machine learning analysis to estimate patient BCVA in all types of cataracts. This study demonstrates significant linear correlation between patients' poBCVA and the algorithmic prediction, with acceptable mean prediction error.

European common frog (Rana temporaria) recolonized Switzerland from multiple glacial refugia in northern Italy via trans- and circum-Alpine routes.

The high mountain ranges of Western Europe had a profound effect on the biotic recolonization of Europe from glacial refugia. The Alps present a particularly interesting case because they form an absolute barrier to dispersal for most taxa, obstructing recolonization from multiple refugia in northern Italy. Here, we investigate the effect of the European Alps on the phylogeographic history of the European common frog Rana temporaria. Based on partial cytochrome b and COXI sequences from Switzerland, we find two mitochondrial lineages roughly north and south of the Alpine ridge, with contact zones between them in eastern and western Switzerland. The northern haplogroup falls within the previously identified Western European haplogroup, while the southern haplogroup is unique to Switzerland. We find that the lineages diverged ~110 kya, at approximately the onset of the last glacial glaciation; this indicates that they are from different glacial refugia. Phylogenetic analyses suggest that the northern and southern haplogroups colonized Switzerland via trans- and circum-Alpine routes from at least two separate refugia in northern Italy. Our results illustrate how a complex recolonization history of the central European Alps can arise from the semi-permeable barrier created by high mountains.

Follow-Up of Nonarteritic Anterior Ischemic Optic Neuropathy With Optical Coherence Tomography Angiography.

Purpose: The purpose of this study was to describe capillary changes in patients with nonarteritic anterior ischemic optic neuropathy (NAION) using optical coherence tomography-angiography (OCT-A) and correlate the results with best corrected visual acuity (BCVA), visual field, OCT retinal nerve fiber layer (RNFL), and combined thickness of ganglion cell and inner plexiform layers (GCIPL) thicknesses. Methods: We enrolled 22 eyes with acute NAION and 30 normal control (NC) subjects in this study. Whole en face image vessel density (WiVD) was measured in the radial peripapillary capillary plexus (RPC), superficial capillary plexus (SCP), and deep vascular complex (DVC) using OCT-A. The examination was repeated at 1 (M1), 3 (M3), 6 (M6), and 9 (M9) months after presentation for NAION. Results: The initial RPC WiVD was significantly reduced in the acute NAION group compared to the NC group (P < 0.0001). Over the course of NAION follow-up, RPC WiVD was significantly reduced at M1 (P < 0.001 compared to M0) and M3 (P < 0.0001 compared to M1). However, there was no significant further decrease at M6 and M9. The initial SCP WiVD was significantly reduced in the NAION group compared to the NC group (P < 0.0001 for both). Over the course of NAION follow-up, a significant decrease was observed for SCP WiVD at M1 (P < 0.001 compared to M0), but no significant change was seen at M3, M6, or M9. DVC was normal in the NAION group. Correlations were found between GCIPL and SCP WiVD in the NAION acute phase (R = 0.604, P = 0.003) and in the M9 atrophic stage (R = 0.551, P = 0.009). At M9, RPC WiVD was correlated with BCVA (R = -0.562, P = 0.007), mean deviation (R = 0.518, P = 0.01), and RNFL (R = 0.655, P = 0.001). Conclusions: Over the course of NAION, OCT-A provided detailed visualization of retinal capillary plexus involvement.

Assessment of corneal epithelial thickness mapping in epithelial basement membrane dystrophy.

PURPOSE: To investigate the corneal epithelial thickness topography with optical coherence tomography (OCT) and its relationship with vision quality in epithelial basement membrane dystrophy (EBMD). METHODS: 45 eyes of EBMD patients, 26 eyes of dry eye (DED) patients and 22 eyes of normal subjects were enrolled. All participants were subjected to 9-mm corneal epithelial mapping with OCT and vision quality was assessed with the optical quality analysis system using the objective scatter index (OSI). Central, superior, inferior, minimum, maximum, and standard deviation of epithelium thickness (Irregularity), were analysed and correlations with the OSI were calculated. RESULTS: The mean (±SD) central, inferior and maximum epithelial thicknesses of the EBMD patients (respectively, 56.4 (±8.1) µm, 58.9 (±6.4) µm, and 67.1 (±8.3) µm) were thicker compared to DED patients (P<0.05) and normal subjects (P<0.05). We found greater irregularity of epithelial thickness in EBMD (5.1±2.5 µm) compared to DED patients (2.6±1.0 µm) (P = 4.4.10-6) and normal subjects (2.1±0.7 µm) (P = 7.6.10-7). The mean OSI was worse in EBMD patients than in DED patients (P = 0.01) and compared to normal subjects (P = 0.02). The OSI correlated with the epithelial thickness irregularity (Spearman coefficient = 0.54; P = 2.65.10-5). CONCLUSIONS: The OCT pachymetry map demonstrated that EBMD patients had thicker corneal epithelium in the central and inferior region. These changes were correlated with objective measurements of vision quality. This OCT characterisation of the EMBD provides a better understanding of the epithelial behaviour in this dystrophy and its role in vision quality.

The Role of Meibography in the Diagnosis of Meibomian Gland Dysfunction in Ocular Surface Diseases.

PURPOSE: To evaluate dysfunction in various ocular surface diseases (OSDs) including primary meibomian gland disease (MGD), perennial allergic conjunctivitis, and primary and secondary Sjögren syndromes. METHODS: A retrospective analysis of 146 patients (111 women and 35 men) with symptomatic OSDs was performed. Patients were divided into two groups: the non-MGD group (55 patients) and the MGD group (91 patients). All patients had an evaluation of ocular surface symptoms and clinical tests, including tear film breakup time (BUT), the first and the mean noninvasive breakup time (NIKBUTf and NIKBUTavg, respectively). The meibomian gland loss of the lower eyelid was quantified using meibography and the meiboscale. RESULTS: There was no significant difference regarding age or sex ratio between the two groups. The meiboscale in the MGD group was significantly higher than that in the non-MGD group (P = 0.003). The non-MGD patients were more symptomatic than those in the MGD group (P = 0.043). There were no significant differences between MGD and non-MGD groups regarding a Schirmer test (P = 0.195), BUT (P = 0.719), NIKBUTf (P = 0.96), or NIKBUTavg (P = 0.70). In the whole population, there was a negative correlation between meiboscale and NIKBUT (r = -0.21, P = 0.02), but no other correlations were found. CONCLUSIONS: Meibomian gland dysfunction was observed among different OSDs. Meibomian gland loss evaluated by meibography might help identify MGD in patients suffering from OSD. TRANSLATION RELEVANCE: Meibography provides a better understanding of MGD in several OSD. It may be useful to integrate this objective analysis to improve treatments of OSD associated to MGD.

Comparative Biochemical Outcomes, Effectiveness and Tolerance of Densiron 68 and Oxane HD for the Management of Complicated Retinal Detachment

Objectives: To compare biochemical outcomes, effectiveness, and tolerance of two high-density silicone oils (HDSOs), silicone oil- RMN3 (Oxane® HD) and silicone oil-Densiron-68 (Densiron® 68), for the management of complicated retinal detachment (RD) associated with inferior proliferative vitreoretinopathy (PVR). Materials and Methods: This was a retrospective, single-centre, comparative case series of 23 patients treated between September 2014 and June 2016. The main inclusion criteria were RD with inferior PVR receiving Oxane® HD or Densiron® 68 following pars plana vitrectomy. The main outcome measures were anatomical success, rate of RD recurrence, and best-corrected visual acuity (BCVA) at 6 months. Secondary outcomes were short-term complications. Results: Twenty-three eyes were included: 16 eyes with Densiron® 68 tamponade and 7 eyes with Oxane® HD tamponade. Anatomical success under HDSO was significantly higher in the Densiron® 68 group (100%) than in the Oxane® HD group (42.8%) (p=0.0455). Recurrent RD was observed in 42.8% of eyes under Oxane® HD, but in none of the patients under Densiron® 68 (p=0.001). Six months after surgery, mean BVCA values (+/- standard deviation) with Densiron® 68 and Oxane® HD were 0.83±0.62 logMAR and 1.81±0.65 logMAR, respectively. BVCA was significantly better in the Densiron® 68 group (p=0.006). No significant differences were observed with regard to intraocular pressure, emulsification, or intraocular inflammation. Conclusion: Densiron® 68 appears to be more effective than Oxane® HD for the management of RD associated with PVR. A randomized, controlled, interventional study is needed to demonstrate this difference.