Treatment of orbital lymphatic malformation with oral sirolimus: a case report / Malformação linfática orbital tratada com sirolimo oral: relato de caso

ABSTRACT It is estimated that lymphatic malformations in children account for 6% of all benign vascular malformations. New medical therapies have been developed for the management of lymphatic orbital disease. The purpose of this article was to describe a clinical case of orbital venolymphatic malformation in a 10-year-old boy, causing proptosis and palpebral edema. The lesion was initially treated with local sclerotherapy. However, the lesion relapsed, and was successfully treated with oral sirolimus. Prospective studies are warranted to determine the appropriate dose and extend the indications of sirolimus in these patients.

RESUMO A incidência de malformações linfáticas em crianças é estimada em 6% de todas as malformações vasculares benignas. Têm sido desenvolvidos novos tratamento para doenças linfáticas orbitárias. Nosso objetivo é descrever um caso clínico de malformação venolinfática orbitária em um menino de 10 anos de idade, causando proptose e edema palpebral. A lesão foi tratada inicialmente com escleroterapia local. No entanto, a lesão teve recidiva e foi tratada com sucesso com sirolimo oral. Ainda são necessários estudos prospectivos para estabelecer a dose apropriada e a duração do tratamento com sirolimo nesses pacientes.

Dry Eye Para-Inflammation Treatment: Evaluation of a Novel Tear Substitute Containing Hyaluronic Acid and Low-Dose Hydrocortisone.

Purpose: The purpose of this study was to check the efficacy and safety of a novel tear substitute containing hyaluronic acid and low-dose hydrocortisone in the treatment of moderate dry eye disease. Methods: In this prospective randomized study, 38 patients with moderate dry eye disease were divided into two treatment groups: Group 1 received one drop of 0.2% sodium hyaluronate and 0.001% hydrocortisone four times daily for 3 months, while Group 2 received 0.15% sodium hyaluronate and 3% trehalose at the same dosage. OSDI and SANDE questionnaires, Non-Invasive Break-Up time (NIBUT), Tear Meniscus Height (TMH), meibography, Lipid Layer Thickness (LLT), Tear Break-Up Time (TBUT), Corneal Staining Score (CFS), and Intraocular Pressure (IOP) were evaluated at baseline and after 1, 2, and 3 months of treatment. Results: During the treatment period, Group 1 showed statistically significant improvement in OSDI score (p = 0.002), SANDE score (p = 0.01), NIBUT (p < 0.0001), LLT (p < 0.0001), TBUT (p = 0.01), and CFS (p = 0.02). In Group 2, significant improvement was observed only in the TBUT score (p < 0.05). Comparison of the two groups showed that NIBUT and LLT were significantly different at the end of treatment (p = 0.001 for both comparisons), with more favorable results for sodium hyaluronate and hydrocortisone than for sodium hyaluronate and trehalose. No significant variations in intraocular pressure were observed in either group during the treatment period (p > 0.05). Conclusions: The study confirms that a 3-months treatment with hyaluronic acid 0.2% in combination with low-dose hydrocortisone 0.001% improves the signs and symptoms of moderate DED and that a low-dosage 0.001% hydrocortisone can be helpful in preventing the progression to chronic stages of DED.

Ocular Surface Microbiota in Naïve Keratoconus: A Multicenter Validation Study.

In the field of Ophthalmology, the mNGS 16S rRNA sequencing method of studying the microbiota and ocular microbiome is gaining more and more weight in the scientific community. This study aims to characterize the ocular microbiota of patients diagnosed with keratoconus who have not undergone any prior surgical treatment using the mNGS 16S rRNA sequencing method. Samples of naïve keratoconus patients were collected with an eNAT with 1 mL of Liquid Amies Medium (Copan Brescia, Italy), and DNA was extracted and analyzed with 16S NGS. The microbiota analysis showed a relative abundance of microorganisms at the phylum level in each sample collected from 38 patients with KC and 167 healthy controls. A comparison between healthy control and keratoconus samples identified two genera unique to keratoconus, Pelomonas and Ralstonia. Our findings suggest that alterations in the microbiota may play a role in the complex scenario of KC development.

Supplemental Toric Intraocular Lenses in the Ciliary Sulcus for Correction of Residual Refractive Astigmatism: A Review.

PURPOSE: This study conducted a critical review of the peer-reviewed literature on the use of supplemental toric intraocular lenses (STIOL) in the ciliary sulcus to correct residual refractive astigmatism. METHODS: This review used PubMed as a database from 1 January 2010 to 13 March 2023. According to the inclusion and exclusion criteria defined, 14 articles were selected for the current review. RESULTS: The data of 155 eyes were analyzed. Most of the studies reviewed had a short follow-up and poor or limited design, including case reports, case series, and retrospective cohorts. The follow-up period ranged from 43 days to 4.5 years. STIOL rotation was the most frequently described complication in the literature, with a mean rotation of 30.48 ± 19.90°. These patients required repositioning in 50 of 155 eyes (32.25%). Moreover, four eyes (2.58%) required scleral fixation sutures and two eyes (1.29%) iris fixation. Other complications were high intraocular pressure (3 eyes, 1.93%), transient corneal edema (2 eyes, 1.29%), corneal decompensation (2 eyes, 1.29%), and pigment dispersion (1 eye, 0.64%). From the total, 57.41% of eyes (89 eyes from 155) achieved within ± 0.50D of target refractive astigmatism. It is important to highlight that at least 52 eyes out of the 155 (33.54%) had an abnormal cornea with irregular astigmatism. CONCLUSION: STIOL seem to offer good visual and refractive outcomes. However, STIOL showed variable rotational stability, especially in some platforms. Further studies with a more robust design, methodology, and standardized analysis methods are needed to confirm these trends.

Shotgun metagenomic sequencing in culture negative microbial keratitis.

PURPOSE: To evaluate the microbiota of culture negative Corneal Impression Membrane (CIM) microbial keratitis samples with the use of shotgun metagenomics analysis. METHODS: DNA of microbial keratitis samples were collected with CIM and extracted using the MasterPure™ Complete DNA and RNA Purification Kit (Epicentre). DNA was fragmented by sonication into fragments of 300 to 400 base pairs (bp) using Bioruptor® (Diagenode, Belgium) and then used as a template for library preparation. DNA libraries were sequenced on Illumina® HiSeq2500. The resulting reads were quality controlled, trimmed and mapped against the human reference genome. The unmapped reads were taxonomically classified using the Kraken software. RESULTS: 18 microbial keratitis samples were included in the study. Brevundimonas diminuta was found in 5 samples while 6 samples showed the presence of viral infections. Cutibacterium acnes, Staphylococcus aureus, Moraxella lacunata and Pseudomonas alcaligenes were also identified as the presumed putative cause of the infection in 7 samples. CONCLUSIONS: Shotgun sequencing can be used as a diagnostic tool in microbial keratitis samples. This diagnostic method expands the available tests to diagnose eye infections and could be clinically significant in culture negative samples.

A new mutation in the PDE6C gene in achromatopsia.

PURPOSE: To report a case of achromatopsia with a new mutation in the PDE6C gene which has not been previously described. METHODS: Case report. PATIENTS: A single patient. RESULTS: A 35-year-old woman with poor vision and impaired color vision. Fundus examination of both eyes (OU) revealed small optic discs. Optical coherence tomography (OCT) showed photoreceptor segment defects and a disruption of the ellipsoid layer in the foveal region, with intact overlying outer limiting membrane and underlying RPE bands. The electroretinogram (ERG) showed scotopic responses: DA 0.01: normal amplitude, b-wave latency at upper limit of normal / slightly increased. DA 3 and DA 10: slightly increased b-wave latency, asymmetry in b amplitude, being lower in the left eye. Oscillatory potentials: no responses are obtained. Photopic responses: LA-3: greatly increased latencies, decreased amplitude. Subsequently, a case of incomplete achromatopsia was suspected. Therefore, a genetic study was carried out showing the homozygous presence of the undescribed pathogenic variant c.660_661del (p.Ser221Tyrfs * 15) in exon 3 of the PDE6C gene. CONCLUSION: Achromatopsia is an autosomal-recessive genetic disease characterized by decreased visual acuity, color blindness, photophobia, and nystagmus. Due to the variability of genetic mutations in achromatopsia, genetic characterization is mandatory in order to improve the efficiency in molecular diagnosis. This data may be useful in future therapeutic strategies. We present a previously undescribed mutation in the PDE6C gene in a patient with incomplete achromatopsia.

Pseudopterygium: An Algorithm Approach Based on the Current Evidence.

Pseudopterygium is a non-progressive conjunctival adhesion to the peripheral cornea secondary to a corneal-limbus damage. According to the literature, the main etiology is a previous eye trauma. Nevertheless, this could be biased by the existence of other underdiagnosed causes of pseudopterygium, some of which may have severe consequences for the integrity of the eye and patient's life. This comprehensive literature review was performed based on a search on the PubMed and Google Scholar databases of relevant pseudopterygium published papers according to our current knowledge and seeks to gather the existing evidence about its diverse etiologies and clinical features, as well as to propose a diagnostic algorithm to simplify its correct approach.

Delayed care in carotid-cavernous fistula due to the Covid-19 pandemic / Atraso no atendimento de casos de fístula carótido-cavernosa devido à pandemia de Covid-19

ABSTRACT Direct carotid-cavernous fistula is a high-flow communication between the internal carotid artery and the cavernous sinus that requires early transarterial embolization for its resolution. We report a case of a patient with a direct carotid-cavernous fistula who subsequently developed a central retinal vein thrombosis due to a delay in treatment related to the health collapse experienced in the first months of the Covid-19 pandemic in Spain.

RESUMO A fístula carótido-cavernosa direta é uma comunicação de alto fluxo entre a artéria carótida interna e o seio cavernoso que requer embolização trans-arterial precoce para sua resolução. É relatado aqui o caso de um paciente com fístula carótido-cavernosa direta que posteriormente desenvolveu uma trombose da veia central da retina devido a um atraso no tratamento relacionado ao colapso de saúde experimentado nos primeiros meses da pandemia de Covid-19 na Espanha.

Treatment of orbital lymphatic malformation with oral sirolimus: a case report.

It is estimated that lymphatic malformations in children account for 6% of all benign vascular malformations. New medical therapies have been developed for the management of lymphatic orbital disease. The purpose of this article was to describe a clinical case of orbital venolymphatic malformation in a 10-year-old boy, causing proptosis and palpebral edema. The lesion was initially treated with local sclerotherapy. However, the lesion relapsed, and was successfully treated with oral sirolimus. Prospective studies are warranted to determine the appropriate dose and extend the indications of sirolimus in these patients.

Pillar tarsoconjunctival flap: An alternative approach for the management of refractory corneal ulcer.

PURPOSE: To report the effectiveness of the surgical procedure of the tarsoconjunctival flap (FTC) in patients with severe ocular surface impairment refractory to previous conventional treatments. METHODS: A retrospective, noncomparative, consecutive case series. RESULTS: Pillar tarsoconjunctival flap (PTCF) was performed in eight eyes of eight patients. Three patients had neurotrophic corneal ulcer (NCU), three had exposure keratopathy and two had corneal melting. Seven of them had satisfactory postoperative results, showing total corneal re-epithelialization that lasted throughout the postoperative follow-up (mean 10.33 ± 2.65 months [SD], range 6 to 12 months). Mean time for the re-epithelization was 11.28 ± 8.97 days [SD] (range 4 to 30 days). CONCLUSION: This study suggest PTCF is a valid alternative to tarsorrhaphy in cases of persistent epithelial defect (PED) or NCU resistant to conventional treatments. Notwithstanding, prospective comparative trials comparing PTFC with conventional and/or novel therapies in PED or NCU are needed to corroborate these findings.

The Combined Effect of Tropicamide and Phenylephrine on Corneal Astigmatism Axis.

PURPOSE: To analyze astigmatism axis changes after tropicamide and phenylephrine combined instillation. METHOD: One hundred and thirty-one eyes from 66 patients enrolled this cross-sectional study. An extensive ocular examination was carried out prior to tropicamide and phenylephrine instillation. Power and axis value from flat, steep, and mean keratometry were calculated using an Auto Kerato-Refractometer (AKR). Later, topography and tomography maps were evaluated with Pentacam HR® (Oculus, Wetzlar, Germany). Subsequently, a single drop of tropicamide 1% and phenylephrine hydrochloride 10% were instilled twice, with a five-minute gap between each instillation. After 30 minutes, the AKR and Pentacam HR® tests were repeated. RESULTS: Incyclotorsion was found in 59 eyes (45.1%) and mean absolute incyclotorsion change was 3.91 ± 3.62 degrees (0.10 to 14.20). Excyclotorsion was found in 72 eyes (54.9%) and mean excyclotorsion change was 4.99 ± 5.94 degrees (0.20 to 36.20). We observed that 74.6% and 68.1% of eyes experienced incyclotorsion and excyclotorsion within 0 to 5 degrees, respectively. Fewer patients experienced incyclotorsion and excyclotorsion changes within 5 to 10 degrees, precisely 11.8% and 19.4%, respectively. Eyes that experienced over 10 degrees of incyclotorsion and excyclotorsion were 13.6% and 12.5%, respectively. CONCLUSION: Astigmatism axis could change after combined tropicamide and phenylephrine instillation. Reference axis marking in astigmatism correction surgery should be performed under the same circumstances as the astigmatism axis has been measured.

Delayed care in carotid-cavernous fistula due to the Covid-19 pandemic.

Direct carotid-cavernous fistula is a high-flow communication between the internal carotid artery and the cavernous sinus that requires early transarterial embolization for its resolution. We report a case of a patient with a direct carotid-cavernous fistula who subsequently developed a central retinal vein thrombosis due to a delay in treatment related to the health collapse experienced in the first months of the Covid-19 pandemic in Spain.

Laser refractive surgery in pregnant or breastfeeding patients.

This systematic review reported the outcomes of laser corneal refractive surgery in pregnant or breastfeeding patients. This study was performed by searching in PubMed, Web of Science, and Scopus databases, on June 15, 2020. Included were 128 eyes from a total of 64 patients, with the mean maximum follow-up was 39.2 ± 36.14 months. Time from surgery to complication ranged from 1 to 67 months, with a mean value of 23.42 ± 22.23 months. Photorefractive keratectomy and laser in situ keratomileusis surgery seem to be stable procedures that are not modified during pregnancy and safe to complete during breastfeeding. Nevertheless, the lack of weight prospective research avoids having a greater certainty on this matter, and because of transitory nature of pregnancy and breastfeeding, it could still be contemplated that surgery risk outweigh the benefits. Additional investigation will be necessary to clarify these issues.

Less is more: new one-step intracameral chemotherapy technique.

Purpose: To describe the feasibility of a new one-step approach to aspirate the aqueous and apply melphalan in a single-go without repeated entries into the anterior chamber. Methods: This retrospective non-comparative study was conducted at a referral center and included 12 patients. The one-step approach is described in a step-wise manner. No complications were observed among the patients. Results: One single injection of intracameral melphalan proved to be a successful treatment in nine cases. Two patients required a second injection, which was administered two weeks after the first one following the same technique. Conclusions: This proved to be a reasonable technique for the smooth application of melphalan in the anterior chamber studded with retinoblastoma seeds. Our outcomes revealed that it is an effective, quick, and cost-effective technique. Longer-term data collection is underway, though initial findings are encouraging.