Instituto de Oftalmología Fundación Conde de Valenciana

Purpose To report the surgical approach of a Lucia keratoprosthesis (KPro) on a sclerocorneal graft in the setting of recurrent graft rejection and perilimbal scleral thinning. Methods A case report. Results We report the case of a 26-year-old man with a history of herpes simplex keratitis, 2 penetrating keratoplasties, graft failure, secondary glaucoma, and a conjunctival flap in the right eye who underwent a Lucia KPro, lens extraction, glaucoma drainage device, and pars plana vitrectomy. The surgery involved releasing the conjunctival flap, revealing severe perilimbal scleral thinning. The use of a sclerocorneal graft to mount the Lucia KPro allowed an effective combined procedure by providing a healthy sclera. At the last follow-up (34 months), the patient had retained the Lucia KPro and had a best-corrected visual acuity of 20/400. Conclusions The Lucia KPro on a sclerocorneal graft may be a viable option to provide healthy sclera in patients requiring combined KPro surgery.

Purpose Description of retinal phenotype by structural and functional testing, ornithine plasma levels and mutational data of OAT gene in patients with Gyrate Atrophy (GA). Methods Ophthalmologic examination, fundus photography (CFP), autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT), Goldmann perimetry (GP), full-field electroretinogram (ffERG) and chromatic perimetry (CP) testing were performed. Ornithine plasma levels were measured. Sanger sequencing mutational analysis of the coding exons and exon–intron junctions of the OAT gene were analyzed. Results Twelve eyes of seven Mexican patients with GA were included. CFF showed peripheric patches of chorioretinal atrophy; FAF revealed peripheric oval areas of hypoautofluorescence; SD-OCT exhibited outer retinal tubulations in 58%, cystoid macular edema in 50%, epiretinal membrane in 42%, foveoschisis and staphyloma in 17%, and hyperreflective deposits in 100% of the eyes; GP showed constricted visual fields in 100% of the eyes; ffERG revealed preserved photopic response in 17% and preserved scotopic response in 17% of the eyes; CP exposed a deficit in generalized response of rods and cones in 100% of the eyes. Mean ornithine plasma levels were 509.5 µmol/L. One patient with genetic confirmation of GA had normal ornithine plasma levels (48 µmol/L). Molecular findings in OAT gene detected two novel pathogenic variants: c.796 C > T (p.Gln266*) and c.721_722dupCC (p.Asp242ArgfsTer6). Conclusion This study provides new information regarding functional and structural diagnosis in patients with GA, expands the understanding of retinal phenotype in patients with GA, reports two novel mutations and presents the first case of GA confirmed by genetic testing with normal ornithine levels.

Purpose: To present a combined surgical approach for repair of a persistent full-thickness macular hole (MH) in patients with myopic traction maculopathy. Methods: Two cases were evaluated. Results: Combining a macular buckle and pars plana vitrectomy with a controlled subretinal injection of a balanced salt solution resulted in MH closure and vision improvement in both cases. Case 1 also had significant recovery of macular sensitivity on microperimetry evaluation. Conclusions: Retinal redetachment was avoided by using the buckle indentation to provide external support of the posterior pole, resulting in successful closure of the MH and improvement in functional outcomes.

Colorectal cancer (CRC) is one of the most common and deadly neoplasms worldwide, with a growing burden in low-and middle-income countries, such as Mexico. This study seeks to evaluate the knowledge, attitudes, and practices related to CRC in a community in Mexico City. A cross-sectional survey was conducted between March and April 2023 among adults aged 45 to 74 residing in six neighborhoods of the Tlalpan borough in Mexico City. The questionnaire included sections on sociodemographic characteristics, medical family history, lifestyle habits, knowledge about CRC, attitudes towards prevention, and willingness to undergo screening. Data were analyzed using logistic regression models to identify factors associated with greater knowledge, attitudes, and practices. A total of 349 people were surveyed. A total of 35.2% reported knowing what CRC is, with greater knowledge of CRC being associated with higher education levels and having a family history of cancer. A total of 23.8% showed positive attitudes towards CRC screening, influenced by having a tertiary level of education. A total of 80.8% of participants expressed willingness to undergo CRC screening if offered, with lower intention observed among men. Levels of knowledge about CRC within the studied community are low, especially among those with lower education levels and without a family history of cancer. Intervention strategies should improve CRC education and foster positive attitudes towards early detection, particularly in high-risk groups.

Sclerocorneal grafts are procedures considered in cases with extensive corneal and scleral tissue destruction. The study aims to describe sclerokeratoplasty outcomes in severely diseased eyes. We performed a retrospective review of clinical records. Demographic characteristics, medical history, surgical indications, aetiology of perforation, visual outcomes, complications associated with the surgical procedure, and ocular integrity at the end of the follow-up were obtained. Wilcoxon-signed rank tests and Mann-Whitney tests were used to compare complications between groups and outcomes at final follow-up. Survival analysis was performed to analyse vision preservation and global integrity and presented in Kaplan-Meier curves. 40 eyes from 40 patients with a mean age of 48.83 ± 18.85 years and a mean follow-up of 21.13 ± 33.92 months were included in the study. Median corrected visual acuity before and after the procedure remained at 2.8 logMAR. Twenty-seven eyes presented complications. The most common complications were a persistent epithelial defect in 11, hypertension in 10, and perforation in 8 eyes. More than half of the eyes (67.5%) presented with either one or more of all complications after corneoscleral graft. No significant differences were found regarding age, gender, or DM history. Concerning perforation, a significant difference was found between infectious and non-infectious only in the presentation of ocular hypertension (p = 0.048). Vision was preserved in 72.5% of the eyes, with a median survival probability of 4.12 years. Preservation of the ocular integrity was achieved in 85% of the eyes, with a median survival probability of 12 years. Sclerokeratoplasty despite being challenging and technically demanding followed by defiant complications, in some situations such as infectious keratitis and autoimmune diseases, is likely a procedure that salvages the eye and preserves vision.

Background Retinal dystrophies (RDs) are the most common cause of inherited blindness worldwide and are caused by genetic defects in about 300 different genes. While targeted next‐generation sequencing (NGS) has been demonstrated to be a reliable and efficient method to identify RD disease‐causing variants, it doesn't routinely identify pathogenic structural variant as copy number variations (CNVs). Targeted NGS‐based CNV detection has become a crucial step for RDs molecular diagnosis, particularly in cases without identified causative single nucleotide or Indels variants. Herein, we report the exome sequencing (ES) data‐based read‐depth bioinformatic analysis in a group of 30 unrelated Mexican RD patients with a negative or inconclusive genetic result after ES. Methods CNV detection was performed using ExomeDepth software, an R package designed to detect CNVs using exome data. Bioinformatic validation of identified CNVs was conducted through a commercially available CNV caller. All identified candidate pathogenic CNVs were orthogonally verified through quantitative PCR assays. Results Pathogenic or likely pathogenic CNVs were identified in 6 out of 30 cases (20%), and of them, a definitive molecular diagnosis was reached in 5 cases, for a final diagnostic rate of ~17%. CNV‐carrying genes included CLN3 (2 cases), ABCA4 (novel deletion), EYS, and RPGRIP1. Conclusions Our results indicate that bioinformatic analysis of ES data is a reliable method for pathogenic CNV detection and that it should be incorporated in cases with a negative or inconclusive molecular result after ES.

Purpose To report the clinical and microbiological profiles of microbial keratitis and its antimicrobial resistance before, during, and after COVID-19. Methods This was a retrospective case-note review of all corneal scrape specimens collected from patients with microbial keratitis from January 2018 to December 2023. Case records were analyzed for demographic characteristics, microbiological diagnosis, and antibiograms. All outcome variables were collected, stratified, and compared between 3 periods: the pre–COVID-19 group (January–December 2019), the COVID-19 group (January 2020–December 2022), and the post–COVID-19 group (January–December 2023). Results A total of 947 corneal cultures from 947 patients were reviewed. Gram-positive bacteria predominated in all periods, with no significant differences in their distribution. Staphylococcus epidermidis was the most frequently identified organism. Pseudomonas aeruginosa was the most common Gram-negative bacterium, with its incidence significantly lower in the post-COVID period. Fungal infections showed a significant increase in the post-COVID group, with Fusarium sp. being the most common fungus and showing a significant increase in incidence in the post-COVID group. Conclusions Despite a stable incidence of microbial keratitis, this study highlights a concerning trend in antibiotic resistance. Although some pathogens became less common, those that persisted have become increasingly difficult to treat. Understanding the clinical and microbiological profiles of microbial keratitis and antimicrobial resistance patterns before and after the COVID-19 pandemic is crucial for informed treatment decisions.

Purpose To analyse the longitudinal changes in imaging parameters in eyes with acute or chronic central serous chorioretinopathy (CSCR). Methods This was a multicentric, retrospective, longitudinal, observational study in patients with a diagnosis of CSCR and having at least 4 years of follow-up. Trend in choroidal thickness (CT), area of double layer sign (DLS), area of retinal pigment epithelium (RPE) alterations, and area of hyper-autofluorescence were analysed. Results A total of 175 eyes of 146 patients with a mean age of 52.9 ± 12.5 years were included. Fifty-two eyes had acute and 123 had chronic CSCR at baseline. There was an overall decreasing trend of CT values during follow up (from 354.4 ± 74.8 at baseline to 343.2 ± 109.4 at final visit). There was a steady rise in DLS width and RPE alteration in the overall cohort (from 811.7 ± 760.6 microns and 3.5 ± 3.3 disc areas respectively at baseline to 1209.1 ± 1113.18 microns, 4.1 ± 3.6 disc areas at final visit). An initial rise in hyper-autofluorescent area followed by steady fall was seen in chronic CSCR. A significant positive correlation (r = 0.54, p = 0.004) was seen between change in DLS width and change in area of hyper-autofluorescence. On linear regression analysis, lower CMT and absence of intraretinal fluid at baseline were associated with greater increase in RPE abnormalities. Conclusion Acute and chronic CSCR had different pattern of change in imaging parameters with area of RPE alterations in acute CSCR not reaching values close to that of chronic CSCR eyes even after long follow up.

AIM: To analyze if a relationship between levels of inflammatory serum biomarkers and severity of primary proliferative vitreoretinopathy (PVR) exists. METHODS: A retrospective case-control study. The healthy adult patients with rhegmatogenous retinal detachment and primary PVR were included in the PVR group. For the control group, healthy adults who underwent cataract surgery were included. The grade of PVR was classified according to the Retinal Society Terminology Committee. Blood samples were obtained before surgery, and processed in MYTHIC 18. Measures of interest were neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and lymphocyte-to-monocyte ratio (LMR), the time between the decrease in visual acuity and surgery, PVR grade, type of surgery, final best corrected visual acuity, and rate of re-detachment. RESULTS: Totally 240 patients were included, 120 in each group, 79 (65.8%) and 56 (46.7%) were male in the PVR and control group, respectively. PVR A had greater levels of monocytes (0.28±0.18 vs 0.12±0.32, P=0.002), neutrophils (4.59±1.51 vs 3.92±1.27, P=0.006), and LMR (9.32±4.42 vs 7.43±3.90, P=0.01). PVR B had a greater monocyte count (0.30±0.13 vs 0.12±0.32, P=0.001), and PVR C demonstrated higher levels in monocytes (0.27±0.12 vs 0.12±0.32, P=0.004), neutrophils (4.39±1.13 vs 3.92±1.27, P=0.004), and LMR (9.63±3.24 vs 7.43±3.90, P=0.002) compared to control, respectively. An LMR cut-off value of 9.38 predicted PVR with a sensibility of 54.2% and specificity of 77.5% and NLR cut-off of 1.70 predicted PVR with a sensibility of 62% and specificity of 54.2%. CONCLUSION: Patients with primary PVR demonstrate greater neutrophil, monocyte, and LMR levels than the control group. Cut-off values obtained from ratios could be useful in a clinical setting when no posterior view of the fundus is possible due to media opacity.

Purpose This report aims to present a case of corneal keloid caused by chronic corneal insult after trauma and Descemet stripping automated endothelial keratoplasty (DSAEK). Case presentation A 35-year-old male with a history of vision loss in the right eye was referred to our hospital. The patient underwent Ahmed Glaucoma Valve Implantation to alleviate elevated intraocular pressure after ocular trauma to the same eye. One year following the procedure, the eye developed endothelial failure, leading to the performance of Descemet’s Stripping Automated Endothelial Keratoplasty (DSAEK) with repositioning of the shunt tube. Upon initial examination, a well-circumscribed elevated white opaque lesion involving the central corneal surface of the RE was observed. Based on the patient’s clinical history, slit lamp examination, and UBM findings, the diagnosis of corneal keloid was established. Superficial keratectomy was performed. Histopathological analysis confirmed the diagnosis of corneal keloid. Following the procedure, BCVA improved slightly. However, 3 months later, the patient underwent a penetrating keratoplasty for visual rehabilitation. Conclusion Corneal keloids should be considered following any form of ocular trauma, particularly in cases involving ocular surgery. Diagnosing corneal keloids can sometimes be challenging due to the variety of potential differentials; however, by carefully evaluating the patient’s medical history and clinical presentation, we can effectively narrow down the differential diagnosis of corneal conditions.

Doyne honeycomb retinal dystrophy (DHRD), also termed malattia leventinese (MLVT), is a dominantly inherited ocular disease characterized by the progressive accumulation of macular and peripapillary drusenoid material beneath the retinal pigment epithelium in the Bruch membrane. In all affected individuals genetically characterized to date, DHRD/MLVT is caused by a single heterozygous p.Arg345Trp missense variant in the EGF‐containing fibulin‐like extracellular matrix protein 1, EFEMP1. Recently, pathogenic variants in the EFEMP1 gene have also been demonstrated in several families with juvenile or adult‐onset hereditary isolated glaucoma. Here, we describe a family featuring a unique phenotype of juvenile glaucoma and DHRD/MLVT caused by a novel EFEMP1 variant. Our results expand both the ocular phenotype associated with EFEMP1 variants and the molecular spectrum causing DHRD by describing the first non‐p.Arg345Trp EFEMP1 pathogenic allele.

Purpose Pterygium is an ocular surface disease characterized by the invasion of fibrovascular tissue from the bulbar conjunctiva to the cornea and is associated with abnormal tear function caused by changes in tear composition and osmolarity. In this study, the effect of two different surgical techniques to remove primary pterygium: conjunctival autograft surgery (CAG) and amniotic membrane transplantation (AMT), on changes in MUC2 and MUC5AC tear mucins concentration were evaluated. Methods Forty-four patients (>18 years old) with primary unilateral pterygium (> 1.0 mm long, measured from the limbus to the apex on the cornea) were randomly enrolled, and assigned to the AMT or CAG group by using the permuted block technique. Patients with systemic inflammatory diseases or other eye comorbidities were excluded from the study. Tear break-up time (TBUT) and best-corrected visual acuity (BCVA) assessments were performed before surgery and at 1, 3, and 6 months after surgery. Tears were collected concurrently with the clinical evaluations, and MUC2 and MUC5AC concentrations were subsequently measured by means of ELISA. Results At 6 months after CAG or AMT, TBUT and BCVA were significantly lower (P < 0.05) in comparison with the baseline values in the study subjects. The tear mucin concentrations of both MUC2 and MUC5AC were significantly higher (P < 0.0001) in patients with pterygium before any surgical procedure than in healthy individuals. The concentration of MUC2 increased at 1 and 3 months after CAG surgery and decreased at 6 months; however, the MUC2 concentration decreased on the AMT group in all time point measurements. Interestingly, the MUC5AC concentration significantly increased at 1 month after AMT or CAG and then decreased at 3 and 6 months after surgery. Finally, an inverse correlation was found between both MUC2 and MUC5AC tear mucins concentration and the TBUT. Conclusions These results suggest that pterygium excision via both CAG or AMT changes the concentrations of the tear mucins MUC2 and MUC5AC during the evaluated times, and these changes could affect tear film stability and clinical recovery after pterygium treatment. Translational Relevance The tear film stability during pterygium excision was evaluated to determine adequate treatments.

Purpose The purpose of the study was to evaluate the efficacy of mitomycin C intravascular chemoembolization (MICE) for corneal neovascularization (CNV). Methods This is a prospective, nonrandomized, interventional study. Patients with stable CNV irrespective of the underlying etiology were enrolled in the study. 0.1% mitomycin C was injected intravascularly in CNV at the slit lamp under topical anesthesia. To evaluate the regression of vessels, the ImageJ software was used to trace and quantify vasculature by a pixel count in standardized clinical slit-lamp photographs. Results Eight eyes from 8 patients with corneal neovascularization and lipid keratopathy were studied. The mean age at treatment was 37 ± 12.75 (range 17–64) years. The median follow-up was 419.5 days (74–1166 days). Herpes simplex keratitis was the main underlying etiology (75%). The visual axis was compromised in 75%, and 100% had stromal scarring. The mean pixel count before MICE was 5983.41 ± 5004.96 pixels. After the treatment, the mean pixel count was 2060.38 ± 3142.96 pixels (delta: 3923.03, P = 0.029). No complications were recorded during the follow-up period. No recurrence of the CNV was observed at the last follow-up. Two eyes (25%) underwent a successful keratoplasty 4 months after MICE. Conclusions MICE effectively reduced neovascularization with no immediate safety concerns, though its impact on vision and long-term safety requires further investigation with larger, longer term studies.

The purpose of this study was to analyze and molecularly describe the largest group of patients with ABCA4-associated retinal degeneration in Latin America. Pathogenic variants in ABCA4, a member of the ATP Binding Cassette (ABC) transporters superfamily, is one of the most common causes of inherited visual deficiency in humans. Retinal phenotypes associated with genetic defects in ABCA4 are collectively known as ABCA4-associated retinal degenerations (ABCA4R), a group of recessively inherited disorders associated with a high allelic heterogeneity. While large groups of Caucasian and Asiatic individuals suffering from ABCA4R have been well characterized, molecular information from certain ethnic groups is limited or unavailable, precluding a more realistic knowledge of ABCA4-related mutational profile worldwide. In this study, we describe the molecular findings of a large group of 211 ABCA4R index cases from Mexico. Genotyping was performed using either next generation sequencing (NGS) of a retinal dystrophy genes panel or exome. ABCA4 targeted mutation testing was applied to a subgroup of subjects in whom founder mutations were suspected. A total of 128 different ABCA4 pathogenic variants were identified, including 22 previously unpublished variants. The most common type of genetic variation was single nucleotide substitutions which occurred in 92.7% (408/440 alleles). According to the predicted protein effect, the most frequent variant type was missense, occurring in 83.5% of disease-causing alleles (368/440). Mutations such as p.Ala1773Val are fully demonstrated as a founder effect in native inhabitants of certain regions of Mexico. This study also gives us certain indications of other founder effects that need to be further studied in the near future. This is the largest molecularly characterized ABCA4R Latin American cohort, and our results supports the value of conducting genetic screening in underrepresented populations for a better knowledge of the mutational profile leading to monogenic diseases. Supplementary Information The online version contains supplementary material available at 10.1007/s00438-024-02174-x.