Differences in ocular findings in two siblings: one with complete and other with incomplete achromatopsia

Purpose

Patients with complete achromatopsia (ACHM) lack cone function, and patients with incomplete ACHM have relatively good visual acuity with residual color vision. The pathological mechanism(s) underlying incomplete ACHM has not been determined. The purpose of this study was to determine the pathophysiology of ACHM in two siblings: one with complete ACHM and the other with incomplete ACHM.

Methods

The medical charts of the two siblings were reviewed.

Results

The sibling with incomplete ACHM had decimal visual acuities that ranged from 0.4 to 0.6 and had moderate color blindness in both eyes. Her younger brother was diagnosed with complete ACHM and was not able to hold fixation, had severe pendular nystagmus, visual acuity that ranged from 0.08 to 0.1, and severe color vision abnormalities in both eyes. Optical coherence tomography (OCT) showed that the ellipsoid zone (EZ) was disruptive in the macular region in both patients. However, careful examination of the OCT images in the incomplete ACHM patient showed a high-density EZ in the central fovea. Adaptive optics (AO) fundus imaging of the sibling with incomplete ACHM revealed sparse cone mosaics remaining within 1° of the foveal center with no mosaics visible outside the central fovea. AO fundus imaging could not be performed in Case 2 because of the severe nystagmus.

Conclusion

Our results showed that cone mosaics were present in the central fovea in the sibling with incomplete ACHM patient. This may explain the better visual acuity and color vision in this sibling.

     

Riggs-type dominant congenital stationary night blindness: ERG findings,a new <Emphasis Type="Italic">GNAT1</Emphasis> mutation and a systemic association

Purpose

To characterize the ultrastructural and functional correlates of hydroxychloroquine (HCQ)-induced subclinical bull’s eye lesion seen on near-infrared reflectance (NIR) imaging.

Methods

An asymptomatic 54-year-old male taking HCQ presented with paracentral ring-like scotoma, abnormal multifocal electroretinography (mfERG) and preserved ellipsoid zone on optical coherence tomography (OCT). Dense raster OCT was performed to create en face reflectivity maps of the interdigitation zone. Macular Integrity Assessment (MAIA) microperimetry and mfERG findings were compared with NIR imaging, en face OCT, retinal thickness profiles and wave-guiding cone density maps derived from flood-illumination adaptive optics (AO) retinal photography.

Results

The bull’s eye lesion is an oval annular zone of increased reflectivity on NIR with an outer diameter of 1450 µm. This region corresponds exactly to an area of preserved interdigitation zone reflectivity in en face OCT images and of normal cone density on AO imaging. Immediately surrounding the bull’s eye lesion is an annular zone (3°–12° eccentricity) of depressed retinal sensitivity on MAIA and reduced amplitude density on mfERG. Wave-guiding cone density at 2° temporal was 25,400 per mm². This declined rapidly to 12,900 and 1200 per mm² at 3° and 4°.

Conclusion

Multimodal imaging illustrated pathology in the area surrounding the NIR bull’s eye, characterized by reduced reflectance, wave-guiding cone density and retinal function. Further studies are required to investigate whether the bull’s eye on NIR imaging and en face OCT is prominent or consistent enough for diagnostic use.

     

<Emphasis Type="Italic">MTHFR</Emphasis> and <Emphasis Type="Italic">MTHFD1</Emphasis> gene polymorphisms are not associated with pseudoexfoliation syndrome in South Indian population

Purpose

Pseudoexfoliation syndrome (PEX) is a late onset disorder of extracellular matrix turnover, associated systemically with cardiovascular and cerebrovascular disease. To evaluate the suggested association of polymorphisms of homocysteine metabolism genes MTHFR (rs1801131, rs1801133) and MTHFD1 (rs8006686) with PEX.

Methods

A case–control association study was undertaken, comprising a total of 1472 individuals including 860 unrelated PEX cases and 612 ethnic-matched cataract controls (CC). All the study subjects were genotyped for three SNPs using the TaqMan allelic discrimination assay. Association and statistical analysis were performed with PLINK 1.07 and STATA 11.1.

Results

Among the three SNPs genotyped, MTHFR polymorphisms did not exhibit significant association with PEX (rs1801131; p = 0.549, rs1801133; p = 0.408). The intronic SNP rs8006686 showed nearly significant association (p = 0.069), and however did not remain significant after Bonferroni correction.

Conclusion

Our study suggests no significant genetic association of MTHFR (rs1801131, rs1801133) and MTHFD1 (rs8006686) polymorphisms in South Indian PEX patients.

     

Genetic diversity and persistent colonization of <Emphasis Type="Italic">Enterococcus faecalis</Emphasis> on ocular surfaces

Purpose

Enterococcus faecalis causes severe acute endophthalmitis and often leads to poor visual outcomes. Conjunctival bacterial cultures occasionally grow atypical bacteria including E. faecalis, which can potentially contribute to the development of postoperative endophthalmitis. However, the characteristics of these ocular E. faecalis strains are unknown. This study is the first attempt to determine the population characteristics of E. faecalis clinical isolates from eye infections and ocular commensals.

Study design

Retrospective

Methods

Twenty-eight E. faecalis ocular isolates were collected from 23 patients at 3 referring hospitals. The multilocus sequence typing (MLST) data were analyzed using the eBURST program. Phenotypes of cytolysin and gelatinase, antibiotic susceptibility, and mutations of the quinolone resistance-determining regions (QRDRs) of gyrA and parC were also examined. Pulsed-field gel electrophoresis (PFGE) was performed for strains from the same patients.

Results

PFGE revealed that 3 patients retained identical strains for 10 months to 2 and a half years. MLST identified 12 sequence types (STs), which were clustered into 3 clonal complexes (CCs) and 8 singletons, with ST179 the largest. Thirteen of the 23 isolates (56.5%) belonged to CC58, CC8, or CC2, which have previously been reported to be major CCs. Six of the 23 strains (26.0%) exhibited high-level quinolone resistance derived from mutations of the QRDRs in both gyrA and parC.

Conclusions

The sequence types of E. faecalis ocular isolates were divergent, with no eye-specific lineages observed. Persistent colonization of E. faecalis on the ocular surface was demonstrated in patients with chronic ocular surface diseases.

     

Changes in the size of the foveal avascular zone after vitrectomy with internal limiting membrane peeling for a macular hole

Purpose

To determine the size of the foveal avascular zone (FAZ) before and after vitrectomy for a macular hole (MH).

Study Design

Retrospective case series study.

Methods

Twenty-five eyes of 25 patients with a unilateral MH that had undergone vitrectomy with internal limiting membrane peeling were studied. The unaffected 17 fellow eyes were studied in the same way. En face images of the parafoveal region were obtained by optical coherence tomography angiography, and the images were used to measure the FAZ before and 1 month after the vitrectomy. The relationships between the different FAZ sizes and the ocular parameters were determined by Pearson product moment correlation analysis.

Results

Compared with the preoperative superficial FAZ (sFAZ), the postoperative sFAZ was significantly reduced (P < 0.001). The postoperative sFAZ was significantly smaller than that of the fellow eye (P < 0.001). The size of the postoperative sFAZ was significantly correlated with that of the preoperative sFAZ, the postoperative foveal thickness (FT), and the sFAZ of the fellow eyes (r = 0.520, P = 0.008; r = ?0.515, P = 0.012; and r = 0.702, P = 0.002, respectively). The size of the postoperative deep FAZ (dFAZ) was significantly correlated with the postoperative FT and the dFAZ of the fellow eyes (r = ?0.441, P = 0.035; and r = 0.499, P = 0.049, respectively). However, no significant correlation was found between the size of the postoperative FAZ and the size of the preoperative MH.

Conclusions

MH closure leads to a significant decrease in the size of the FAZ symmetrical to the size of the fellow eye. The size of the postoperative FAZ is influenced by the postoperative FT independently of the size of the MH.

     

Long-term clinical course of 2 Japanese patients with <Emphasis Type="Italic">PRPF31</Emphasis>-related retinitis pigmentosa

Purpose

To assess the long-term clinical course of 2 patients with PRPF31-related retinitis pigmentosa (RP).

Patients and methods

We clinically examined 2 unrelated patients with RP and collected peripheral blood samples from them. Ophthalmic examinations, including best-corrected visual acuity measurements, Goldmann perimetry, full-field electroretinography, fundus autofluorescence imaging, and optical coherence tomography, were also performed. The visual acuity and visual field were continuously monitored. To identify the causative mutations, 74 genes known to cause RP or Leber congenital amaurosis were examined via targeted next-generation sequencing.

Results

The clinical courses of both patients were similar. The onset of nyctalopia occurred in the first decade. Fundus examination showed typical RP. Although the patients’ visual acuity was relatively preserved even into the fourth decade, the visual field area exhibited rapid deterioration in the mid-teens, with severe concentric constriction in the third decade. Mutation analysis revealed PRPF31 mutations as the cause for autosomal dominant RP in both patients.

Conclusions

To the best of our knowledge, few reports of long-term observations pertaining to patients with PRPF31-related RP have been published. The findings reported herein, especially those relating to the progressive degeneration of the visual field, may ultimately play a role in the provision of high-quality counseling for patients with this condition.

     

Occurrence of <Emphasis Type="Italic">Demodex</Emphasis> species in patients with blepharitis and in healthy individuals: a 10-year observational study

Purpose

Two Demodex species (eyelash mites)—D. folliculorum and D brevis—are believed to be associated with human skin and eye diseases. However, the clinical significance of infection with Demodex species remains controversial.

Study design

The aim of this study was to estimate the prevalence of ocular demodicosis in patients with blepharitis as compared with the prevalence in the healthy population in Poland.

Methods

This case-control prospective study was carried out from 2007 to 2016. The enrolled patients (668) were divided into 2 groups: the study group, comprising 553 patients with blepharitis (349 women and 204 men, aged 17–88 years), and the control group, comprising 115 healthy volunteers without a history of ocular pathologies (78 women and 37 men, aged 17–88 years). A sample of 10 eyelashes was taken aseptically from each eye of the examined person and later studied under a light microscope.

Results

Demodex species were found in 62.4% (345/544) of the patients in the study group and in 24.3% (28/100) of the controls (P = .001, OR = 0.006). The overall prevalence was 55.8% (373/668) in all the examined participants. The presence of Demodex infection increased with age in both groups. No association of Demodex infection with gender was found (119/204 vs 226/349; P > .05, OR 1.086). A high mean number of mites was present more frequently in patients aged older than 50 years and in those who complained especially about itching (P < .05).

Conclusion

The prevalence of ocular demodicosis is significantly correlated with blepharitis and increases with age.

     

Heterozygous deletion of the <Emphasis Type="Italic">OPA1</Emphasis> gene in patients with dominant optic atrophy

Purpose

Several OPA1 variants cause dominant optic atrophy (DOA), the most common hereditary optic atrophy. Here, we describe a newly discovered OPA1 deletion in 3 patients with DOA.

Methods

A female proband, her brother, and her mother underwent complete ophthalmologic examinations that included optical coherence tomography and visual field assessments using a Humphrey Field Analyzer with both standard automated perimetry (SAP) and short-wavelength automated perimetry (SWAP). Genomic DNA from each patient was examined to detect genomic rearrangements involving OPA1; the genetic analysis involved both multiplex ligation probe amplification and conventional Sanger sequencing.

Results

Each patient had temporal optic disc pallor and significant thinning of the retinal nerve fiber layer in both eyes, although there was phenotypic variability among the patients that ranged from asymptomatic to moderately decreased visual acuity. For the affected brother and mother, the mean deviation values from SAP were within the normal range, whereas those from SWAP were significantly below the normal range (P < .05). The genetic analysis identified a newly discovered heterozygous deletion that encompasses exons 9–14 and revealed a breakpoint junction that directly connects intron 8 to intron 14.

Conclusions

This newly described deletion is likely to lead to loss of function in the functionally important GTPase domain encoded by exons 9–16, and the heterozygosity suggested that haploinsufficiency caused the phenotypes. The deletion may be associated with mild DOA phenotypes ranging from asymptomatic to moderately decreased visual acuity.

     

Infliximab exerts a dose-dependent effect on retinal safety in the albino rabbit

Purpose

To study whether the ERG and other clinical findings help to distinguish between advanced hydroxychloroquine (HCQ) retinopathy and pericentral or diffuse retinitis pigmentosa (RP) with similar fundus appearance.

Methods

We conducted a retrospective analysis of patients with advanced HCQ retinopathy (n = 11), pericentral RP (n = 8) and diffuse RP (n = 8). Pericentral RP was defined as having limited fundus damage and relatively normal flicker ERG time-to-peak. Diffuse RP had typical loss of the rod ERG and flicker timing delay. All patients showed reduced amplitude of the ISCEV responses in the full-field electroretinogram (ERG). Aspects of history, visual field results, fundus appearance, fundus autofluorescence and ocular coherence tomography were also compared.

Results

Relative to pericentral RP, patients with HCQ toxicity showed delayed flicker ERG time-to-peak and lower ERG amplitudes, particularly combined rod–cone responses. Relative to diffuse RP, most HCQ toxicity patients had some preserved rod ERG response, and there was no obvious predilection for rod over cone damage. In addition, patients with HCQ toxicity usually lacked markers of long-standing degeneration such as bone spicule figures or severe loss of peripheral field. History of familial disease and long-standing night blindness were specific to RP.

Conclusions

While the early signs of HCQ damage are typically regional in the posterior pole, advanced disease is characteristically diffuse (unlike pericentral RP). This is appropriate for a systemic toxin, as is the finding that rods and cones were both affected in the ERG to a similar degree (unlike genetic rod–cone dystrophies). For patients with severe HCQ exposure and some of our discriminatory findings, and no family history or prior night blindness, HCQ toxicity is a sufficient diagnosis without invoking a second rare disease (Occam’s razor).

     

Clinical characteristics according to the laterality of ocular torsion in unilateral superior oblique palsy

Background

To compare clinical characteristics according to the laterality of objective ocular torsion in patients with unilateral superior oblique palsy (SOP).

Methods

This retrospective study included all patients with a diagnosis of unilateral SOP. They were classified into subgroups according to correspondence between the paretic eye and the extorted eye using fundus photography. Ocular alignment and muscle action were tested by the prism and alternate cover tests and 4-scale movement measure. Various clinical factors, including the amount of preoperative ocular torsion and change in ocular torsion postoperative, were compared between the accordance and disaccordance groups.

Results

A total of 70 Asian patients (140 eyes) were included and underwent fundus photography preoperatively. Excyclotorsion in the paretic eye was defined as accordance (45 patients), excyclotorsion in the nonparetic eye was defined as disaccordance (25 patients). The presence of horizontal strabismus was detected in 28 (62%) patients in the accordance group and only 8 (32%) patients in the disaccordance group (p?=?0.024). All horizontal strabismus observed in the accordance group involved exodeviation. The proportion of horizontal strabismus surgery was also significantly larger in the accordance group than the disaccordance group (p?=?0.039). Among those patients, there were 26 who underwent fundus photography postoperatively. There was significant reduction in ocular excyclotorsion postoperatively in the accordance group (p?=?0.001), but no significant reduction postoperatively in the disaccordance group (p?=?0.270). There was no significant correlation between the amount of torsional reduction and the amount of vertical deviation reduction (p?=?0.979).

Conclusions

In cases of preoperative excyclotorsion in paretic eyes, careful consideration of combined horizontal misalignment which may require surgical correction is helpful to manage unilateral SOP.

     

Relationship between retinal artery trajectory and axial length in Japanese school students

Purpose

The trajectories of the supratemporal and infratemporal retinal arteries are associated with the position of the nerve fiber layer defects of glaucomatous eyes. However, no reports have thus far been published on changes in the retinal artery trajectory (RA trajectory) along with growth. Thus, the purpose of this study was to investigate the differences in the RA trajectories of elementary and junior high school students and the associations with axial length (AL).

Study design

Prospective cross-sectional observational study.

Methods

In total, 122 right eyes of healthy elementary school students (61 boys, 61 girls) and 170 right eyes of healthy junior high school students (83 boys, 87 girls) were studied. The AL was measured and color fundus photographs were taken, and used for the analysis. The RA trajectory was plotted in the color fundus photographs and fitted to a second-degree polynomial equation, \( {\text{a}}{{\text{x}}^2}/100 + {\text{bx}} + {\text{c}} \), using ImageJ. The coefficient “a” represented the steepness of the trajectories. The differences in the RA trajectories and ALs of elementary and junior high school students were determined using the Mann–Whitney test. The association between the RA trajectory and AL was determined using the Spearman rank correlation.

Results

The AL and the RA trajectory of the junior high school students were significantly greater than those of the elementary school students (P < 0.001). The RA trajectory was significantly associated with the AL in both elementary (r = 0.26, P = 0.005) and junior high (r = 0.32, P < 0.001) school students.

Conclusions

Junior high school students have a longer AL and narrower RA trajectory than do elementary school students. A longer AL is associated with a narrower RA trajectory in both elementary and junior high school students.

     

The association of <Emphasis Type="Italic">Helicobacter pylori</Emphasis> with choroidal and retinal nerve fiber layer thickness

Purpose

To investigate the effect of Helicobacter pylori (H. pylori) infection on choroidal thickness (CT) and retinal nerve fiber layer thickness (RNFLT).

Methods

The study included 25 patients with H. pylori infection and 25 healthy individuals as the control group. Helicobacter pylori patients were classified as the pre-treatment (Group 1; n: 25) and the post-treatment (Group 2; n: 25). RNFLT and CT were measured before and after treatment of H. pylori infection, using enhanced depth imaging (EDI) spectral-domain optical coherence tomography (Spectralis, Heidelberg Engineering, Heidelberg, Germany). The axial length and intraocular pressure were also measured.

Results

The mean subfoveal CT was 320.96 ± 29.15 μm in Group 1 and 287.48 ± 49.17 in the control group (p = 0.007), while the mean subfoveal CT did not show any difference between Group 2 and the control group (p > 0.05). No statistically significant difference was determined between the H. pylori patients and the control group in respect of RNFLT values (p > 0.05).

Conclusions

CT increases during H. pylori infection and returns to the normal range within 6 weeks of treatment. RNFLT does not show any change during H. pylori infection. The data related to the subfoveal CT may be useful in understanding the pathogenesis of central serous chorioretinopathy developing in H. pylori patients.

     

A novel <Emphasis Type="Italic">C</Emphasis>x<Emphasis Type="Italic">50</Emphasis> (<Emphasis Type="Italic">GJA8</Emphasis>) p.H277Y mutation associated with autosomal dominant congenital cataract identified with targeted next-generation sequencing

Background

To unravel the molecular genetic background responsible for autosomal dominant congenital pulverulent nuclear cataracts in a four-generation Chinese family.

Methods

Family history data were collected, ophthalmological examinations were performed, and genomic DNA was extracted from peripheral blood of the family members. The candidate genes were captured and sequenced by targeted next-generation sequencing, and the results were confirmed by Sanger sequencing. The structure modelling of the protein was displayed based on Swiss-Model Server, and its possible changes in the secondary structure were predicted using Antheprot 2000 software. The chemical dissimilarity and possible functional impact of an amino acid substitution were performed with Grantham score, PolyPhen-2, and SIFT predictions. Protein distributions were assessed by confocal microscopy.

Results

A novel heterozygous c.829C?>?T transition that led to the substitution of a highly conserved histidine by tyrosine at codon 277 (p.H277Y) in the coding region of connexin50 (Cx50, GJA8) was identified. Bioinformatics analysis showed that the mutation likely altered the secondary structure of the protein by replacing the helix of the COOH-terminal portion with a turn. The mutation was predicted to be moderately conservative by Grantham score and to be deleterious by both PolyPhen-2 and SIFT with consistent results. In addition, when expressed in COS1 cells, the mutation led to protein accumulation and caused changes in Cx?50 protein localization pattern.

Conclusions

This is a novel missense mutation [c.829C?>?T, (p.H277Y)] identified in exon 2 of Cx50. Our findings expand the spectrum of Cx50 mutations that are associated with autosomal dominant congenital pulverulent nuclear cataract.

     

Comparison of visual outcomes and reading performance after bilateral implantation of multifocal intraocular lenses with bilateral monofocal intraocular lenses

Purpose

To compare the visual acuity outcomes, contrast sensitivity function (CS) and reading ability in patients with bilateral multifocal intraocular lenses and patients with bilateral monofocal lenses.

Setting

Vizyon Eye Center, Denizli, Turkey.

Design

Comparative case series.

Methods

Consecutive bilateral cataract patients having implantation of Acriva Reviol MFM 611 multifocal IOLs (Group A) or Acriva BB UD 613 monofocal IOLs (Group B) were included. Parameters analyzed 6 months postoperatively included monocular uncorrected distance (UDVA), binocular uncorrected intermediate (UIVA), binocular uncorrected near (UNVA), CS and bilateral reading performance using MN Read.

Results

The study evaluated 42 eyes in Group A and 40 eyes in Group B. There were no statistically significant differences in UDVA between two groups postoperatively (p = .39). Binocular UIVA and binocular UNVA are better in Group A (p = .00, p = .00). Under photopic and scotopic conditions, contrast sensitivity results were decreased in Group A, especially at high spatial frequencies. No statistically difference were found in reading acuity, critical print size and maximum reading speed between two groups (p = .57, p = .62, p = .22).

Conclusions

This study concludes that multifocal lenses are reliable and efficient replacements for reading glasses since they significantly improve the vision for near or intermediate distance activities.

     

Association between the <Emphasis Type="Italic">8</Emphasis>-<Emphasis Type="Italic">oxoguanine DNA glycosylase</Emphasis> gene Ser326Cys polymorphism and age-related cataract: a systematic review and meta-analysis

Purpose

To investigate the association between the 8-oxoguanine DNA glycosylase (OGG1) gene Ser326Cys (rs1052133) polymorphism and age-related cataract (ARC).

Methods

MEDLINE and EMBASE were searched to identify potential studies published before May 19, 2017, investigating the association between the OGG1 gene Ser326Cys polymorphism and ARC risk. The quality of eligible studies was assessed using the Newcastle–Ottawa Scale tool. The association between the OGG1 gene Ser326Cys polymorphism and ARC was analyzed using meta-analysis. Publication bias and sensitivity analyses were also performed.

Results

Six studies were included in this systematic review, and five of these studies with Hardy–Weinberg equilibrium were included in a meta-analysis. The sample size of the meta-analysis was 3716, including 1831 patients with cataract and 1885 controls. Odds ratios (ORs) were 0.67 (95% confidence interval (CI) 0.52–0.85), 0.90 (95% CI 0.54–1.51), 0.52 (95% CI 0.32–0.85) and 0.72 (95% CI 0.56–0.92) for recessive, dominant, additive and allele contrast models, respectively. Sensitivity analysis indicated that the results of the meta-analysis were robust. No publication bias was observed.

Conclusions

The OGG1 gene Ser326Cys polymorphism was associated with ARC risk.

     

A novel mutation in the <Emphasis Type="Italic">PRPF31</Emphasis> in a North Indian adRP family with incomplete penetrance

Purpose

To identify the underlying genetic defect for non-syndromic autosomal dominant retinitis pigmentosa (adRP) with incomplete penetrance in a North Indian family.

Methods

Family history and clinical data were collected. Linkage analysis using 72 fluorescently labeled microsatellite markers flanking all the 26 candidate genes known for adRP was performed. Mutation screening in candidate gene at the mapped region was performed by bi-directional DNA sequencing.

Results

Positive two-point lod scores?>?1.0 (θ?=?0.000) suggestive of linkage were obtained with markers D19S572, D19S927 and D19S926 at 19q13.42, in the vicinity of PRPF31 gene. Mutation screening in all the 14 exonic regions and intron–exon boundaries of PRPF31 revealed a novel change, i.e. c.896G>A (p.Cys299Tyr) in exon eight. The observed change segregated in heterozygous form in all the six affected members and in three carriers, consistent with incomplete penetrance. This substitution was not observed in tested 15 unaffected members and in 200 ethnically matched controls.

Conclusion

Present study describes mapping of a locus for non-syndromic adRP with incomplete penetrance at 19q13.42 in a North Indian family and identifies a novel missense mutation (p.Cys299Tyr) in PRPF31 localized at the mapped interval. The observed substitution lies in the NOP domain of PRPF31 that exhibit RNA and protein binding surfaces and thus may interfere in the formation of spliceosome complex. Due to p.Cys299Tyr substitution hydrogen bonds are generated, which may result in conformational changes and PRPF31 protein deformity. Present findings further substantiate the role of PRPF31 in adRP with incomplete penetrance and expand the mutation spectrum of PRPF31.

     

Prognostic factors after aflibercept therapy for typical age-related macular degeneration and polypoidal choroidal vasculopathy

Purpose

To determine factors predictive of visual outcomes in eyes treated with intravitreal aflibercept injections (IAIs) for typical neovascular age-related macular degeneration (AMD) or polypoidal choroidal vasculopathy (PCV).

Study design

Retrospective, multicenter, institutional, consecutive, interventional case series.

Methods

One hundred nine eyes (107 patients) with treatment-naïve neovascular AMD at 3 university hospitals were studied. After a loading phase of 3 monthly 2.0-mg IAIs, injections were administered every 2 months. The baseline clinical characteristics were investigated in relation to the 12-month visual outcomes. Changes in the mean best-corrected visual acuity (BCVA) were measured at 12 months after initiation of aflibercept therapy.

Results

Forty-five eyes (41.3%) had typical neovascular AMD, and 64 eyes (58.7%) had PCV. The changes in the mean BCVA at 12 months compared with baseline did not differ significantly (P = .737) between the 2 groups. Stepwise analysis showed that larger gains in the BCVA at 12 months were associated with poor BCVA (P < .001), no pigment epithelial detachment (P = .004), and subretinal fluid (P = .039) at baseline in eyes with typical neovascular AMD; larger gains in the BCVA were associated with poorer BCVA (P < .001), presence of choroidal vascular hyperpermeability (CVH) (P = .013), and subretinal fluid (P = .044) at baseline in eyes with PCV.

Conclusions

Although poorer BCVA and the presence of subretinal fluid predicted larger gains in BCVA in both subtypes treated with aflibercept, eyes with typical neovascular AMD had greater improvement if no pigment epithelial detachment was present, while eyes with PCV had greater improvement if CVH was present.

     

<Emphasis Type="Italic">Oestrus ovis</Emphasis> external ophtalmomyiasis: a case report in Burgundy France

Background

External ophtalmomyiasis (EOM) is a zoonosis related to the presence of Oestrus ovis larvae at the ocular level in small ruminants (i.e. ovine, caprine). In humans, EOM is a rare cosmopolitan disorder, mostly described in warm and dry rural areas in patients living close to livestock areas. In metropolitan France (excluding Corsica), EOM is an exceptional disease with less than 25 cases recorded since 1917.

Case presentation

We report a case of EOM in a 19-years old man in the last week of September 2016 in Burgundy.

Conclusion

The diagnosis of an EOM in Burgundy, a French region described as cold and humid, is surprising and could be due to a more marked climatic warming during the vegetative season in Burgundy resulting in the implantation of Diptera of the genus Oestrus sp. in this region.