Journal of Clinical & Translational Ophthalmology

Background: The prevalence of foveal hypoplasia in different inherited retinal diseases (IRDs) has not been compared in a large patient cohort. We aimed to investigate the prevalence and visual significance of foveal hypoplasia in IRDs. Methods: Participants included patients with IRDs and control subjects. All patients had macular optical coherence tomography (OCT). Results: Among our 357 patients, 123 had rod-cone dystrophy (34.5%), 22 had cone/cone-rod dystrophy (6.2%), 30 had macular dystrophy (8.4%), and 182 (51%) were controls. Having a phenotype of rod-cone (OR = 12.9, p < 0.001) or cone/cone-rod dystrophy (OR = 10.2, p < 0.001) was associated with higher odds of having foveal hypoplasia. Males had higher odds of having foveal hypoplasia (OR = 2.4, p = 0.006). The prevalence of foveal hypoplasia in the retinitis pigmentosa GTPase regulator (RPGR) group (8/15 (53.3%)) was significantly higher than in matched controls (0/15, 0.0%) (p = 0.002). Atypical foveal hypoplasia had the highest LogMAR of 0.50 (±0.37), which was higher than grade one 0.16 (±0.17) (p = 0.038). Grade one LogMAR was not different from normal fovea 0.20 (±0.28) (p = 0.572). Conclusions: We report that rod-cone and cone/cone-rod IRDs are associated with foveal hypoplasia. Based on our findings, detection of foveal hypoplasia in a patient with reduced vision should prompt consideration of an IRD. Full article

This case report describes a unique ocular finding in a 64-year-old male with a history of central serous chorioretinopathy with choroidal neovascular membrane, treated with intravitreal injections of Aflibercept. The patient was found to have an iatrogenic retro-lenticular non-pigmented cystic formation in the left eye, an anomaly not previously documented in the literature. Comprehensive imaging included ultrasound biomicroscopy and anterior segment optical coherence tomography. This report emphasises a rare ocular finding and the significance of recognising iatrogenic cataracts following intravitreal injections. It also highlights the necessity of individualised patient management and preoperative evaluations to prevent surgical complications. Full article

Background: In this study, we compare the 12-month results of eyes that underwent ab externo, open-conjunctival XEN45 gel stent placement with mitomycin C (MMC) with and without the intraoperative addition of Ologen collagen matrix (XEN45 and XEN45 + Ologen groups, respectively). Methods: Intraocular pressure (IOP) measurements were recorded postoperation at 1 month, 3 months, 6 months, and 9 months, and 12 months, and IOP reduction, reduction in number of IOP-lowering medications, and success rate were compared between XEN45 and XEN45 + Ologen groups. A complete success was defined as a ≥20% drop from baseline IOP at 12 months without the use of medications and without any of the following: an additional procedure (e.g., needling), a recorded IOP ≥ 21 mm Hg at two consecutive visits, or the occurrence of catastrophic events (e.g., no light perception (NLP)). A qualified success was defined as an IOP reduction of ≥20% from baseline with the use of medications. We included 145 eyes with at least 1 month of follow-up data, 46 in the XEN45 group and 99 in the XEN45 + Ologen group. Of these, 113 eyes had 12 months of follow-up data comprising 41 XEN45 eyes and 72 XEN45 + Ologen eyes. Results: There were no significant differences in the IOP change from baseline between XEN45 and XEN45 + Ologen groups except at the 3-month postop timepoint (p < 0.05). At the 12-month follow-up, 41.5% (17/41) of XEN45 eyes and 52.8% (38/72) of XEN45 + Ologen eyes met complete or qualified success criteria. Conclusions: No significant differences in success rate and decrease in the number of IOP-lowering medications from baseline were identified between XEN45 and XEN45 + Ologen groups. Full article

Background: This study innovatively combines Artificial Intelligence (AI) algorithms with smartphone technology, automatically detecting the Near Point of Convergence (NPC) and diagnosing Convergence Insufficiency (CI) without the need for extra diagnostic tools and, notably, without having to rely on the subject’s vocal response, marking an unprecedented approach in the field to the best of our knowledge. Methods: This was a prospective study that enrolled 86 participants. The real-time tracking of eye structures and movements was conducted using AI technologies integrated with a mobile application (MobileS). Participants brought the smartphone closer, focusing on a target displayed on the screen. The system calculated pupillary distance (PD) and phone-to-face distance, incorporating a unique feature called the exodeviation episode’s counter (ExoCounter) to determine the NPC. Additionally, participants underwent testing using the RAF Ruler test (RulerT), considering the ground truth. Results: MobileS demonstrated significant correlation with the RulerT, as evidenced by a Pearson correlation coefficient of 0.74 (p < 0.001) and an Intraclass Correlation Coefficient (ICC) of 0.73 (p < 0.001), highlighting its reliability and consistency with conventional ophthalmic testing. Additionally, the system exhibited notable sensitivity and specificity in diagnosing CI. Notably, user feedback indicated a preference for the MobileS, with 71% of participants favouring it for its ease of use and comfort. Conclusions: MobileS is a precise, user-friendly tool for independent NPC measurement, applicable in tele-ophthalmology and home-based care. Its versatility extends beyond CI diagnosis, marking a significant advancement in ophthalmic diagnostics for accessible and efficient eye care. Full article

Objective: To report a case of ocular toxoplasmosis reactivation in a patient with neurosarcoidosis undergoing immunosuppressive therapy. Methods: Case report and literature review. Results: A 34-year-old male with neurosarcoidosis, treated with Infliximab and Mycophenolate Mofetil, presented with sudden visual decline in his left eye. Multimodal imaging revealed active chorioretinitis. Serological tests showed elevated Toxoplasma IgG levels with normal IgM levels. Treatment with oral corticosteroids and antibiotics led to significant improvements in vitreous turbidity and lesion inactivity at follow-up, despite unchanged visual acuity. Conclusions: This case highlights the risk of toxoplasmosis reactivation in immunosuppressed sarcoidosis patients. It emphasizes the importance of considering ocular toxoplasmosis even with normal IgM levels, and demonstrates the value of multimodal imaging in diagnosis and follow-up. Full article

Over 2.2 billion people across the globe face significant barriers to accessing essential ophthalmic care, with elderly, rural, and refugee populations being disproportionately affected, deepening existing disparities in eye care. Three-dimensional printing is a novel technology that has the potential to transform the field and improve access by alleviating many patient-specific barriers. This article delves into the evolution of 3D printing within ophthalmology, highlighting its current applications and future potential. It explores various 3D printing techniques and numerous biomaterials discussing their effectiveness in creating advanced solutions such as bioengineered corneas, ocular prosthetics, and innovative treatments for dry eye syndrome, from punctal plugs to lacrimal gland models. Additionally, 3D printing has revolutionized drug delivery systems for conditions like glaucoma, retinal diseases, and ocular brachytherapy. Whether through 3D printed contact lens-based drug delivery systems or polycaprolactone implants that biodegrade and provide sustained drug release without adverse effects, these systems hold immense potential in the field. Despite its promise, the integration of 3D printing into clinical practice presents challenges, which the article addresses alongside strategies for overcoming them. By mapping out the technological advancements and challenges, this review offers a roadmap for enhancing global eye care accessibility and improving patient outcomes on a global scale. Full article

In light of the potential effects of spaceflight on the anterior segment of the eye, there is a pressing need for anterior segment imaging to be available and accessible to monitor astronauts’ ocular health, including alterations to the cornea and lens. We aim to highlight the clinical basis and need for anterior segment imaging for astronauts. We explore the impacts of spaceflight-associated hazards, including microgravity and radiation, on astronauts’ risk of developing anterior segment pathology including risk of ocular trauma, infection, dry eye symptoms, cataracts, and possibly additional pathologies from increased radiation exposure. Such risks highlight the potential value that longitudinal assessment of anterior ocular structures would offer in future spaceflight missions. Specifically, anterior segment imaging would enable evaluations of corneal morphology, including longitudinal monitoring for microgravity-induced changes, and evaluation of interventions that aim to preserve anterior segment health during spaceflight. Lastly, non-invasive anterior segment imaging allows for unique insights into astronaut ocular health and can be performed routinely through modalities such as anterior segment optical coherence tomography (AS-OCT) and ultrasound biomicroscopy (UBM). We discuss these modalities and their implications for astronaut health during future spaceflight. Full article

Wound dehiscence is a rare complication after penetrating keratoplasty (PK) that may occur with or without prior trauma. Multiple factors may influence corneal wound healing, including patient factors, corneal wound characteristics, and other external factors. There is also the possibility that systemic medications could impact corneal wound healing. Possible factors that may predispose a cornea to experience wound dehiscence are discussed. We propose a hypothesis that oral angiotensin-inhibiting medications could play a role in reduced corneal wound healing. A literature review was conducted to investigate the effect of angiotensin inhibitors on corneal wound healing. Five patients on systemic oral angiotensin-inhibiting medications at the time of PK developed dehiscence of the graft–host wound junction following removal of sutures. The dehiscence required resuturing in all cases and resulted in an expulsive choroidal hemorrhage and complete loss of vision in one eye. Age, diabetes, lack of corneal neovascularization, early suture removal, underlying epithelial basement membrane dystrophy, corneal oedema, slower tapering of topical corticosteroid dosage, and glaucoma medication with preservatives were possible predisposing factors for some of these instances of wound dehiscence. However, oral angiotensin-inhibiting medications were taken by all patients in this series, and the literature suggests that ACE inhibitors and ARBs can reduce corneal fibrosis, resulting in inadequate healing. Oral angiotensin-inhibiting medications could have played an anti-fibrotic role in these corneae and predisposed them to wound dehiscence with minimal trauma. Despite limited evidence, these medications warrant further investigation as potential modulators of corneal wound healing. Full article

Orbital cavernous venous malformations (CVMs) are the most common primary lesions in the orbit, characterized by slow growth and benign nature. CVMs that become symptomatic require intervention. Surgical management is guided by the expertise of the operating surgeon. Common surgical techniques include anterior orbitotomy (transconjunctival and transcutaneous), lateral and transcranial orbitotomy, and endoscopic transnasal approaches. Liquid agent embolization aids in easier lesion resection with reduced blood loss and potential prevention of recurrence. Our case reports detail the advantages and disadvantages of this approach, showcasing collaboration between neuroradiologists and orbital surgeons. Full article

Glaucoma, the second leading cause of irreversible blindness globally, encompasses a heterogeneous group of ocular disorders characterized by the progressive degeneration of retinal ganglion cells. Pharmacotherapy remains the cornerstone of treatment, primarily aimed at reducing intraocular pressure (IOP) by decreasing aqueous humor production or enhancing its outflow. The therapeutic classes employed include carbonic anhydrase inhibitors, β-blockers, α-adrenergic agonists, prostaglandin analogs, parasympathomimetics, Rho kinase inhibitors, and hyperosmotic agents. Despite their efficacy, these medications are associated with a range of ocular and systemic side effects, influenced by their mechanisms of action, formulation, and dosage. Ocular adverse effects, such as irritation, dry eye, allergic reactions, and infections, are common, while systemic absorption may lead to more severe outcomes, including organ dysfunction, exacerbation of comorbid conditions, or life-threatening cardiovascular events. Given these potential risks, it is critical for clinicians to understand and monitor these adverse effects as they significantly affect patient adherence, quality of life, and treatment outcomes. Ongoing research is essential to develop novel therapeutic regimens, agents, or delivery methods that minimize side effects and improve compliance. Incorporating patient-reported outcomes in clinical practice may further enhance the assessment of treatment impact, facilitating more tailored and effective management of glaucoma. Full article

Background: Immunotherapy represents a revolutionary approach in cancer treatment, where it leverages the body’s immune system to target and destroy malignant cells. In ophthalmic oncology, immunotherapeutic agents offer potential for managing traditionally challenging ocular malignancies, such as melanoma and retinoblastoma. In this literature review, we aim to provide a comprehensive and up-to-date review of all current research and trends in this field. Methods: This literature reviews data from recent clinical trials, peer-reviewed articles, and meta-analyses focused on immunotherapeutic interventions for eye-related cancers. Emphasis is placed on the types of immunotherapies being tested, including checkpoint inhibitors, vaccine therapies, and adoptive cell transfer therapies. Results: Recent advancements indicate a growing and significant improvement in survival rates and tumor reduction with minimal adverse effects. Clinical trials focusing on melanoma show significant promise with targeted therapies, while early-stage investigations into retinoblastoma and conjunctival melanoma explore innovative approaches to harness the immune system without harming visual function. Conclusions: Immunotherapy in ophthalmic oncology is evolving rapidly and has demonstrated a remarkable potential as a primary treatment strategy. Although results from various clinical trials are promising, further research is needed to refine these therapies, minimize side effects, and improve overall patient outcomes. The future directions involve more comprehensive clinical trials that integrate immunotherapy with existing treatment modalities to establish more robust treatment protocols. Full article

Background: Cycloplegic refraction is crucial in pediatric eye assessments. While spherical refraction changes due to cycloplegia are well-documented, astigmatic alterations remain unclear. This study assessed the agreement between spherical and astigmatic refraction pre- and post-cycloplegia. Methods: We enrolled 96 patients (mean age: 12.5 ± 2.4 years), including 35 myopes, 30 emmetropes, and 31 hyperopes. Pre- and post-cycloplegia autorefraction and keratometry (Myopia Master) were conducted using 1% cyclopentolate. Ocular residual astigmatism (ORA) was calculated as the difference between refractive and keratometric astigmatism. Astigmatism was analyzed using Fourier analysis (J0 and J45). Results: Cycloplegia resulted in a more positive spherical equivalent (SE) (+0.80 D), with myopes showing the smallest (+0.38 D) and hyperopes showing the highest variation (+1.47 D) in SE. With-the-rule (WTR) astigmatism predominated in the refractive and keratometric measurements, while ORA was against-the-rule (ATR). Cycloplegia shifted the refractive J0 (+0.06 D) towards more WTR and decreased ORA J0 (+0.05 D). No effect was observed in the J45 component. About 25% of patients exhibited astigmatism changes above 0.25 D, with refractive J0 variation being positively correlated with accommodation relaxation (0.044 D per D of relaxation). Conclusion: Cycloplegia induces clinically significant changes in the spherical component, but minimal variations in astigmatic components, predominantly in hyperopic eyes, likely reflecting alterations in crystalline lens anatomy. Full article

Background: This study aims to evaluate the visual performance, both quantitative and qualitative, of the novel non-diffractive extended monofocal intraocular lens (Evolux, Sifi) following cataract surgery. This serves as a preliminary study to assess its feasibility and improve the research methodology. Methods: We conducted a single-arm, non-randomized, retrospective study at Onioptic Hospital, Craiova, Romania, involving patients who underwent cataract surgery from November 2022 to August 2023. The following visual parameters were evaluated 3 months postoperatively: monocular uncorrected (UDVA) and corrected (CDVA) distance visual acuity at 4 m; uncorrected (UIVA) and distance-corrected (DCIVA) intermediate visual acuity at 60 cm; uncorrected (UNVA) and distance-corrected (DCNVA) near visual acuity at 40cm; postoperative refraction expressed as spheric equivalent (SE) and Quality of Vision (QoV) questionnaire scores. The contrast sensitivity and defocus curve were evaluated 1 month postoperation in 22 patients who underwent surgery in both eyes. SPSS Statistics 26.0 was used for statistical analysis, employing percentages, standard deviations (SDs), and a 95% confidence interval (95% CI). Results: Among the 103 eyes from 81 patients (mean age of 68.7 ± 1.845), 64% achieved an UDVA of logMAR 0.1 or better, and 91.26% achieved a CDVA of logMAR 0.1 or better at 3 months. Additionally, 83.24% of the eyes exhibited a UIVA of logMAR 0.3 or better, and 60.19% attained an UNVA of logMAR 0.3 or better. The SE was within ±0.50 D in 77.76% of the eyes. The QoV mean scores were as follows: frequency = 30.20 ± 16; severity = 17.19 ± 12.45; bothersome = 15.45 ± 12.94. Conclusions: The Evolux IOL demonstrated very good biometric predictability and excellent distance visual performance and very good intermediate vision, with no photopic side effects or glare in our sample population. This study provides a strong foundation for a larger comparative study with an extended depth-of-focus (EDOF) IOL, incorporating contrast sensitivity and defocus curve assessments to enhance the research quality. Full article

Glaucoma is the leading cause of irreversible blindness globally, with the commonest subtype being primary open angle glaucoma (POAG). POAG is characterised by an increase in intraocular pressure (IOP), optic nerve damage and irreversible visual field loss. People of African descent (AD) are significantly more susceptible to POAG when compared to people of European descent (ED), and the reasons for this are complex and multifaceted. The vast level of genetic diversity in AD populations has allowed, through genome-wide association studies (GWAS), for the identification of several single nucleotide polymorphisms (SNPs) as well as differences in mitochondrial haplogroups, which could explain the pathophysiology underlying the increased susceptibility of AD populations to POAG. The altered expression of genes such as MYOC as well as the expression of inflammatory mediators influencing reactive astrocytes have also been implicated. There are also several differences in morphology between AD and ED eyes which must be considered, including differences in central corneal thickness (CCT) and corneal hysteresis (CH) as well as variation in properties of optic discs. The link between all the aforementioned factors and the increased prevalence of POAG in AD populations will be explored in this review. Full article

Objective: To investigate any relationships between exfoliation syndrome or exfoliation glaucoma and age-related macular degeneration utilizing the Utah population database. Design: This was a retrospective, case–control cohort study. Subjects, Participants, and/or Controls: We identified 3405 patients diagnosed with exfoliation syndrome (XFS) or exfoliation glaucoma (XFG) during a dilated eye exam within the UHealth system from 1996 to 2021, whose dry or wet age-related macular degeneration (AMD) status was assessed. A population-based control pool of 257,714 UHealth patients with no XFS/XFG diagnosis and a dilated eye exam history from 1996 to 2021 was compiled, with its patients randomly selected and individually matched 3:1 to cases based on sex and age at index diagnosis of their respective case. Methods: A covariate analysis was performed of characteristics and risk factors associated with XFS/XFG, which included race/ethnicity, residence location, partner/marital status, and family history of XFS/XFG, obesity, tobacco use, alcohol use, osteoporosis/vitamin D deficiency, primary/essential hypertension, ocular hypertension, and cataract surgery. Main Outcome Measure: We studied the trends of non-exudative (dry) or exudative (wet) AMD in a large Utah population study of XFS/XFG patients and controls. Results: Of 3396 XFS/XFG patients, as well as 10,179 individually matched 3:1 control patients, 64% were female and the average age of XFS onset was 74.3 yrs. In a univariate model, we observed a very modest increased risk of wet AMD in XFS/XFG patients (odds ratio, OR = 1.14, 95% confidence interval (CI) 0.99–1.32), which did not achieve statistical significance (p = 0.07). After adjusting for the main effects of potential confounders, there was no greater presentation of AMD in XFS/XFG patients when compared with controls (dry AMD: OR = 0.94, 95% CI 0.85–1.05, p = 031; wet AMD: OR = 0.98, 95% CI 0.83–1.14, p = 0.76). In XFS/XFG patients compared to controls, the risk of having cataract surgery was elevated (OR = 2.39, 95% CI 2.18–2.62). However, after accounting for an interaction with AMD, XFS/XFG patients who underwent cataract surgery did not exhibit an increased risk of either dry or wet AMD (dry AMD: OR = 0.91, 95% CI 0.80–1.03; wet AMD: OR = 0.89, 95% CI 0.75–1.07). The risk of AMD in XFS/XFG patients vs. controls showed no association with osteoporosis/vitamin D deficiency for dry (OR 0.78 95% CI 0.66–0.92 p = 0.004) or wet AMD (OR = 0.72 95% CI 0.56–0.92 p = 0.01), while we found a borderline positive association with both dry and wet AMD if they had osteoporosis/vitamin D deficiency. Conclusion: Using the Utah Population Database, we found that a cataract surgery history significantly impacts the association between AMD and XFS, and that vitamin D deficiency/osteoporosis is a significant confounder of the association. However, no direct association between XFS and AMD was found in this study. Full article

Peripheral ulcerative keratitis (PUK) is an inflammatory process causing thinning of the cornea, epithelial defect, and inflammatory infiltrates and is caused by several etiologies. This sight-threatening condition can indicate the presence of potentially fatal underlying systemic conditions, and, accordingly, warrants thorough investigation upon clinical presentation and immediate intervention in order to mitigate disease progression. This review aims to provide an update on the current diagnostic and management landscape for PUK, specifically with immunomodulatory methods in cases of noninfectious etiologies. A literature search was conducted to develop a nuanced, evidence-based perspective in which we present our preferred approaches. There are currently a number of viable options, following which a “stepladder” method is typically employed, where treatment methods are escalated as a result of inadequate clinical response to lower-level interventions. This method balances efficacy with the potential side effects of immunomodulatory medications. Ultimately, carefully monitored treatment regimens are needed to mitigate visual impairment in patients with PUK, and efforts must be made to achieve steroid-free remission to avoid the known side effects of long-term corticosteroid use. Full article

(1) With persistent symptoms emerging as a possible global consequence of COVID-19, the need to understand, diagnose, and treat them is paramount. This systematic review aims to explore the potential of optical coherence tomography (OCT) and/or optical coherence tomography angiography (OCTA) in effectively diagnosing long COVID. (2) The database PubMed and, to reduce selection bias, the AI research assistant Elicit, were used to find relevant publications in the period between February 2021 and March 2024. Included publications on OCT and OCTA analysis of participants with acute COVID symptoms, those after recovery, and participants with long COVID symptoms were organized in a table. Studies with participants under the age of 18, case reports, and unrelated studies, such as pure slit-lamp examinations and subgroup analyses were excluded. (3) A total of 25 studies involving 1243 participants and 960 controls were reviewed, revealing several changes in the posterior eye. Long COVID participants displayed significant thinning in retinal layers in the OCT, including the macular retinal nerve fiber layer (mRNFL), ganglion cell layer (GCL), and inner plexiform layer (IPL). Divergent findings in recovered cohorts featured mRNFL reduction, GCL increase and decrease, and GCL-IPL decrease. Long COVID OCTA results revealed reduced vessel density (VD) in the superficial capillary plexus (SCP), intermediate capillary plexus (ICP), and deep capillary plexus (DCP). In recovered patients, SCP consistently showed a reduction, and DCP exhibited a decrease in five out of six publications. The foveal avascular zone (FAZ) was enlarged in five out of nine publications in recovered participants. (4) During various stages of COVID-19, retinal changes were observed, but a comparison between long COVID and recovered cohorts was aggravated by diverse inclusion and exclusion criteria as well as small sample sizes. Changes in long COVID were seen in most OCT examinations as thinning or partial thinning of certain retinal layers, while in OCTA a consistently reduced vessel density was revealed. The results suggest retinal alterations after COVID that are variable in OCT and more reliably visible in OCTA. Further research with larger samples is important for advancing long COVID diagnosis and management. Full article

Background: Pre-clinical studies related to the use of rapamycin (Sirolimus^®), a mammalian target of rapamycin (mTOR) inhibitors, for age-related macular degeneration (AMD) have shown improved therapeutic outcomes. However, knowledge of its dose–effect relationship in humans with AMD has been limited and requires further investigation. Objective: The aim of this study is to assess the safety and efficacy of Sirolimus^® for treatment of AMD in humans and determine the dose range for its application in the eye. Methods: A systematic literature review was conducted following the PRISMA guidelines. The MEDLINE, Embase, CINAHL, Scopus and Cochrane Central Registry of Controlled Trials databases were searched for original clinical studies examining the effects of Sirolimus^® on outcomes linked to AMD in humans. This review has been registered in the PROSPERO database. Results: Only four studies were found to satisfy the inclusion and exclusion criteria and were analyzed in this systematic review in a narrative way. The dose range of rapamycin in the limited number of studies appears to be toxic to the retina. Conclusion: Future studies should focus on establishing the optimal low-dose range of Sirolimus^® that effectively induces autophagy without causing retinal toxicity, as current data indicate a potential therapeutic window that remains underexplored. Specifically, longitudinal, controlled studies with larger, heterogeneous patient populations are necessary to determine the precise dosing that balances efficacy and safety in treating AMD. Full article

(1) Background: It is estimated that 10% of dry eye disease (DED) occurs in patients with Sjogren’s syndrome (SS-DED) and represents a challenge when it comes to treatment. Both innate and adaptive immunity participate in the pathogenesis of SS-DED. Previous studies suggest that Th1 and Th17 cell immune responses are the main actors associated with the pathogenesis of this disease. Ocular surface mucins play a fundamental role in ocular surface homeostasis. In particular, the main transmembrane mucins, MUC1, MUC4 and MUC16, are dysregulated in DED and could be involved in the activation of pro-inflammatory cytokines at the ocular interface. Thus, the objective of this work was to analyze mucin and cytokine expression in ocular surface (OS) damage and correlate it with clinical symptoms.; (2) Methods: 18 patients with SS-DED and 15 healthy controls were included in the study. Samples of conjunctival cells were obtained through cytology impression. RNA was extracted from the collected samples and used to determine the expression of MUC1, 4 and 16 by qRT-PCR. Pro-inflammatory cytokines associated with DED pathogenesis (IL17 and IL-22) were also evaluated. The results were contrasted with the clinical findings on examination of the patients. (3) Results: We observed a significant increase in the expression of MUC1 and MUC4 in patients with SS-DED. MUC4 significantly correlated with both lower production and stability of the tear film, as well as greater superficial keratopathy. On the other hand, MUC1 and MUC16 were positively correlated with the presence of more severe DED symptoms. However, we could not reproduce an increase in IL-17 and IL-22 in DED patients as previously reported; (4) Conclusions: This work constitutes an approach to understanding how the gene expression of transmembrane mucins associates with SS-DED symptoms and clinical signs. Full article