Eyelid lesions in children are always a surgical challenge. We present the case of a 2-year-old girl with subtotal amputation of the upper eyelid due to a dog bite. Immediate surgical reimplantation with a composite graf...Eyelid lesions in children are always a surgical challenge. We present the case of a 2-year-old girl with subtotal amputation of the upper eyelid due to a dog bite. Immediate surgical reimplantation with a composite graft was performed, achieving complete functional recovery without affecting ocular closure. At 6 years of follow-up, the only sequel was the absence of eyelashes in the affected area. The use of composite grafts seems to be an effective option in this type of injuries, allowing good functional and aesthetic results without limiting future reconstructions.
Robles Amor P, Cabo Sánchez A, Antón López A
… +7 more, Duch Tuesta S, Moreno Montañés J, Muñoz Negrete FJ, Rodríguez Uña I, Sáenz Francés F, García Feijoó J, Martínez de la Casa JM
INTRODUCTION AND OBJECTIVES: To identify the differences in ocular and epidemiological parameters between highly myopic subjects with and without glaucoma. MATERIAL AND METHODS: A total of 386 patients diagnosed with hig...INTRODUCTION AND OBJECTIVES: To identify the differences in ocular and epidemiological parameters between highly myopic subjects with and without glaucoma. MATERIAL AND METHODS: A total of 386 patients diagnosed with high myopia were recruited in hospital consultations from October 2022 through October 2023. High myopia was defined as an axial length ≥26 mm and/or a refractive error ≥-6 diopters of sphere. We perform a complete ophthalmological examination, incorporating optical biometry to measure axial length and an objective refraction to quantify refractive error. RESULTS: 386 high myopic patients without (Group I: n = 138) and with glaucoma (Group II: n = 248) who attended for consultation were included in the study. The distribution by sex was similar in both groups. The mean age was slightly higher in the glaucoma group than in the subjects without glaucoma, without finding statistically significant differences (63.8 vs 62.4 years; p = 0.349). Patients with glaucoma had a higher mean refractive error: -15.52 diopters vs -12.75 diopters finding statistical significance (p = 0.002). The mean axial length was significantly greater in patients with glaucoma: 30.21 vs 28.93 mm (p < 0.001). CONCLUSIONS: Our results firstly suggest that increased axial length and greater refractive error are directly related to the prevalence of glaucoma in patients with high myopia. The non-association between a higher prevalence of glaucoma and older age in these patients is of special interest. These findings underscore the importance of increasing awareness of the increased prevalence of glaucoma in people with high myopia.
Keratitis-ichthyosis-deafness (KID) syndrome is a rare disease caused by mutations in the GJB2 gene. This gene encodes the protein connexin 26, which is essential for gap junctions in the epidermis, inner ear and corneal...Keratitis-ichthyosis-deafness (KID) syndrome is a rare disease caused by mutations in the GJB2 gene. This gene encodes the protein connexin 26, which is essential for gap junctions in the epidermis, inner ear and corneal epithelium. Clinically, it is characterised by dermal hyperkeratotic lesions, sensorineural deafness and chronic keratitis that is difficult to manage. We describe two siblings diagnosed with KID syndrome who were followed up in our department for more than 15 years. Both developed numerous ocular complications associated with chronic keratitis and limbar insufficiency that required multiple keratoplasties, systemic immunosuppression and even keratoprosthesis. This case is noteworthy for the long-term follow-up of this condition and the difficult ocular management, highlighting the importance of a multidisciplinary approach and personalised therapeutic strategies.
The collaboration of ophthalmologists with the industry, in their role as opinion leaders (OLs) who interpret, modify, and disseminate information to professional networks, is susceptible to bias. This review explores th...The collaboration of ophthalmologists with the industry, in their role as opinion leaders (OLs) who interpret, modify, and disseminate information to professional networks, is susceptible to bias. This review explores the critical role of OLs in the healthcare industry and their evolution into Key Evidence Leaders (KELs), emphasizing the importance of differentiating KELs from traditional OLs to promote evidence-based practices and maintain research integrity in healthcare. OLs often rely on their reputation and experience, which can make them susceptible to industry biases, particularly when financial incentives are involved. The concept of KELs marks a significant evolution from traditional OLs. Unlike OLs, KELs base their influence on expertise in clinical evidence and research, rather than personal experience or industry affiliations. KELs possess strong analytical skills, engage in interdisciplinary collaboration, and emphasize transparency and unbiased dissemination of information. The emergence of KELs represents a significant shift towards evidence-based leadership in healthcare. Differentiating KELs from traditional OLs is crucial for ensuring that the messages received by healthcare professionals are less biased. By supporting KELs who prioritize patient-centered evidence, the industry can enhance trust in the application of medical devices and drugs.
OBJECTIVE: This study aims to describe the phenotypic progression of patients with Stargardt disease caused by mutations in the ABCA4 gene and reports on the mutated allelic variants. METHOD: We conducted an observationa...OBJECTIVE: This study aims to describe the phenotypic progression of patients with Stargardt disease caused by mutations in the ABCA4 gene and reports on the mutated allelic variants. METHOD: We conducted an observational, ambispective, and descriptive study. Patients who had Stargardt disease by the ABCA4 gene mutation were included. The study used the genetic report and the baseline examinations appearing on health records. To evaluate the phenotypic variation, a new ophthalmological evaluation was conducted using macular OCT, retinography, autofluorescence, and electroretinogram. RESULTS: The study identified a total of 32 cases with a mean follow-up of 6 years. The mean age of onset was 16 years. The mean initial and final VA were 0.79 and 0.95 logMAR, respectively. The mean initial and final CMT were 142.5 and 135 microns, respectively. The predominant degree of fundus involvement and autofluorescence pattern at the beginning and end was macular atrophy with flecks and the low signal of macular autofluorescence surrounded by a heterogeneous background, respectively. Initial electroretinography showed predominantly preserved function of rods and cones, while in the end most cases presented rod and cone system dysfunction. A total of 9 cases were homozygous, and 31 different mutant allelic variants were identified. The most common variant was p.Trp1618Cys, followed by p.Ala1773Val. Two new allelic variants, p.Leu634Pro, and p.Tyr665Serfs*5, were also discovered. CONCLUSIONS: The study found that patients experienced structural and functional deterioration at the follow-up. The study also identified 2 predominant variants and 2 new variants. Homozygotes had an earlier onset of the disease.
INTRODUCTION AND OBJECTIVES: Retinitis pigmentosa (RP) represents a spectrum of rod-cone inherited disorders with characteristic symptoms, and functional changes. The Asp-190-Tyr pathogenic variant of the RHO gene impair...INTRODUCTION AND OBJECTIVES: Retinitis pigmentosa (RP) represents a spectrum of rod-cone inherited disorders with characteristic symptoms, and functional changes. The Asp-190-Tyr pathogenic variant of the RHO gene impairs rodopsin transport through the endoplasmic reticulum, leading to accumulation within photoreceptors, inducing cytotoxicity. This report presents the ophthalmologic phenotype of this rare variant. MATERIALS AND METHODS: Retrospective study including patients from one extended family presenting with RP, with an autosomal dominant (AD) variant of the RHO gene (Asp-190-tyr). Baseline demographic/ophthalmologic data and ancillary testing was collected. RESULTS: Twelve individuals were included; eight had generalized RP. The mean age was 64 years - four were female. Genetic testing in 5/8 patients with RP revealed an AD variant in the RHO gene, with replacement of an aspartic acid with tyrosine at codon 190. Visual acuity ranged from no light perception to 6/10. Fundoscopy and fundus autofluorescence showed bilateral generalized RP pattern: optic disc pallor, bone spicules, and arterial narrowing. Perimetry in four patients showed tunnel vision. Electrophysiology revealed marked wave reduction in both pattern and flash ERG. Severe atrophy of the outer retinal layers with cystoid macular oedema was observed in 4/8 patients. CONCLUSIONS: This study highlights the phenotype of the Asp-190-Tyr variant. Previously, it was described in a family with a regional pattern of RP and relatively preserved visual function. Our study changes this paradigm, with patients presenting with a generalized RP phenotype and significant visual impairment. The provided data may help offer accurate prognostic information to patients with this variant.
Recent years have witnessed remarkable advancements in biotechnological ocular drug delivery systems, introducing novel strategies such as gene therapy, cell-based systems, and targeted carriers. This article focuses spe...Recent years have witnessed remarkable advancements in biotechnological ocular drug delivery systems, introducing novel strategies such as gene therapy, cell-based systems, and targeted carriers. This article focuses specifically on age-related macular degeneration (AMD), the most prevalent ocular condition. While gene therapy holds promise for AMD treatment, it also presents significant challenges, leading to the exploration of cell-based therapy as a complementary or alternative approach. To address these hurdles and ensure successful market translation, new companies often form collaborative expert teams encompassing all relevant fields, including regulatory affairs. As medical science continues to evolve, a comprehensive understanding of gene therapy, cell-based delivery, biocompatibility, safety considerations, regulatory aspects, and ongoing clinical trials is essential to fully grasp the safety and effectiveness of these novel ocular therapies. Consequently, this paper primarily explores these key areas. The successful evolution of biotechnological ocular delivery signals a positive shift towards personalized medicine, which is expected to significantly improve the quality of life for AMD patients in the near future.
PURPOSE: To evaluate the effectiveness and safety of mitomycin C (MMC) use when implanting Ahmed valve in patients with refractory glaucoma. METHODS: Cohort study involving 34 patients divided into two groups of 17 patie...PURPOSE: To evaluate the effectiveness and safety of mitomycin C (MMC) use when implanting Ahmed valve in patients with refractory glaucoma. METHODS: Cohort study involving 34 patients divided into two groups of 17 patients each: Group 1 (MMC use) and Group 2 (no MMC use), with a one-year follow-up. Complete success was defined as intraocular pressure (IOP) between 6-18 mmHg without the use of antiglaucoma medications; qualified success referred to the same IOP range but associated with antiglaucoma medications, while failure was characterized by IOP outside this range, severe complications or reintervention. RESULTS: The overall success rate in Group 1 was 88.2%, and in Group 2, 94.2%. There was an average reduction in IOP of 18.0-± 11.5 mmHg in Group 1 and 11.3 ± 5.0 mmHg in Group 2. The hypertensive phase occurred in 17.6% of the participants in the first group and the second, 70.6%. CONCLUSIONS: The use of MMC decreases the hypertensive phase observed in Ahmed valve implant surgery, thereby achieving better IOP control.
A patient with low vision has been followed by the optometry, ophthalmology, and genetics services since the age of 9, with a diagnosis of Stargardt disease. During follow-up, multiple tests have been performed: ocular a...A patient with low vision has been followed by the optometry, ophthalmology, and genetics services since the age of 9, with a diagnosis of Stargardt disease. During follow-up, multiple tests have been performed: ocular angiography, genetic analysis, and visual evoked potential studies. The patient presents with a disease compatible with macular dystrophy, associated with the ABCA4 gene, which is slowly progressive and currently irreversible, with no effective treatment available. The patient is currently managed for low vision and has visual aids that allow them to function in daily life and develop professionally. The focus on low vision management in patients with diseases that irreversibly affect vision is of great importance to ensure these patients can achieve proper development in society.
Papillary drusen are deposits of calcified hyaline material at the level of the optic nerve head. They are considered the most frequent cause of pseudopapilledema, so in clinical practice it is essential to identify and...Papillary drusen are deposits of calcified hyaline material at the level of the optic nerve head. They are considered the most frequent cause of pseudopapilledema, so in clinical practice it is essential to identify and differentiate them from true optic disc oedema. Parainfectious optic neuritis is an inflammatory optic neuropathy, usually bilateral and acute, which occurs between 1 and 3 weeks after an infectious disease. It usually occurs as a papillitis, since it is usually located in the head of the optic nerve causing optic disc oedema. In this article we present an unusual case of bilateral papillitis superimposed on papillary drusen in a young male with Chlamydia trachomatis prostatitis. After an exhaustive etiological study, it was concluded that, in this patient, papillitis was associated with his sexually transmitted disease.
Endogenous endophthalmitis is a serious intraocular infection resulting from hematogenous spread of microorganisms. Although Streptococcus pneumoniae is an uncommon cause, its aggressiveness can lead to severe complicati...Endogenous endophthalmitis is a serious intraocular infection resulting from hematogenous spread of microorganisms. Although Streptococcus pneumoniae is an uncommon cause, its aggressiveness can lead to severe complications. We present the case of a 48-year-old male who presented to the emergency department with blurred vision and periorbital pain in the right eye. Examination revealed hypertensive panuveitis with vitreous hemorrhage. Broad-spectrum topical and systemic antibiotics were initiated. Imaging studies showed signs of orbital cellulitis without venous thrombosis, and aqueous humor culture confirmed the presence of S. pneumoniae, prompting hospital admission. Despite treatment, clinical progression led to the development of an intraorbital abscess requiring evisceration, after which the patient evolved favorably, allowing for later prosthesis placement. This case highlights the aggressiveness of pneumococcal endogenous endophthalmitis and the importance of early, multidisciplinary management.
Acute acquired comitant esotropia is a rare manifestation of strabismus that has been used to describe an acute late-onset of esotropia with diplopia in a previously orthotropic individual. It often occurs in older child...Acute acquired comitant esotropia is a rare manifestation of strabismus that has been used to describe an acute late-onset of esotropia with diplopia in a previously orthotropic individual. It often occurs in older children and adults and has been associated with multiple etiologies. Despite the multiple reports conducted its cause is still controversial. We describe a young patient with epidemic keratoconjunctivitis with an acute comitant esotropia. He had no underlying diseases and regained stereo acuity after surgical alignment of both eyes.
Bacterial keratitis is one of the leading causes of monocular blindness worldwide. The following case describes the case of a patient with bilateral bacterial keratitis caused by Klebsiella oxytoca, a gram-negative bacte...Bacterial keratitis is one of the leading causes of monocular blindness worldwide. The following case describes the case of a patient with bilateral bacterial keratitis caused by Klebsiella oxytoca, a gram-negative bacterium often overlooked in cases of bacterial infectious keratitis. The patient is a 20-year-old man with a past medical history of allergic keratoconjunctivitis and keratoconus who developed an epithelial defect following improper handling of his contact lenses. Initially, the patient was managed with ocular lubricants. However, he experienced a rapid and aggressive deterioration in visual acuity, with an expansion of the epithelial defect and the appearance of bilateral stromal infiltrates. Due to the poor response to empirical antimicrobial therapy, cultures were obtained from the contact lenses, which identified the presence of K. oxytoca as the causative agent. The antibiogram revealed resistance to widely used antibiotics such as ciprofloxacin. Following these results, targeted antimicrobial therapy was initiated, leading to significant clinical improvement and substantial anatomical and visual recovery. This case underscores the importance of recognizing the potential aggressiveness of K. oxytoca in immunocompetent patients, which can cause severe ocular infections, particularly in individuals with risk factors such as contact lens wear. It also highlights the critical need for microbiological cultures and antibiograms to guide effective therapy, given the variable resistance patterns of this microorganism.
INTRODUCTION AND OBJECTIVES: Pathological myopia is associated with structural changes, including posterior staphylomas, which can be categorized based on their morphology. This study aims to classify posterior staphylom...INTRODUCTION AND OBJECTIVES: Pathological myopia is associated with structural changes, including posterior staphylomas, which can be categorized based on their morphology. This study aims to classify posterior staphylomas in patients with pathological myopia using the 3D WIDE SCAN REVIEW Swept-Source optical coherence tomography (OCT) platform and compare the findings with the Ohno-Matsui classification. PATIENTS AND METHODS: We conducted a retrospective cross-sectional cohort study, including 59 eyes from 31 patients diagnosed with high myopia (axial length≥26mm and/or spherical equivalent≥-6.00 diopters) and pathological myopia, defined as equal to or greater than diffuse chorioretinal atrophy or the presence of a posterior staphyloma, according to the META-PM study group. Posterior staphylomas were categorized based on fundus depression shape and appearance using 3D WIDE SCAN REVIEW analysis and compared using the Ohno-Matsui 2014 classification. Additionally, myopic maculopathy was assessed using the Atrophic-Tractional-Neovascular (ATN) classification, explicitly evaluating atrophic (A), tractional (T), and neovascular (N) components. Image acquisition was performed using the Topcon Triton Swept-Source OCT system, and images were processed and analyzed with the 3D WIDE SCAN REVIEW platform. RESULTS: The patients' mean age was 49.56 years (SD±18.50; 71.05% women). The distribution of posterior staphylomas varied among the study population. Type I (wide macular) was the most prevalent, observed in 22.0% of cases, followed by Type II (narrow macular) at 10.2%, Type III (peripapillary) at 8.5%, Type IV (nasal) at 3.4%, and Type V (inferior) at 8.5%. This classification highlights the predominance of macular involvement in pathological myopia, with nasal and inferior staphylomas being less common. Regarding myopic maculopathy, A1 was the most common atrophic component (43.5%), T0 was predominant (78.3%), and N0 was the most common neovascular category (83%). CONCLUSIONS: The 3D WIDE SCAN REVIEW Swept-Source OCT platform provides a high-resolution, non-invasive method for detailed visualization and classification of posterior staphylomas. By using Topcon Triton SS-OCT for image acquisition and 3D WIDE SCAN REVIEW software for analysis this study demonstrates a clinically viable alternative to traditional imaging modalities for evaluating posterior staphylomas in pathological myopia.
INTRODUCTION AND OBJECTIVES: Kabuki syndrome is a rare congenital malformation syndrome originally described by Niikawa et al. in 1981. A wide array of pathogenic variants and phenotypes have been described ever since. H...INTRODUCTION AND OBJECTIVES: Kabuki syndrome is a rare congenital malformation syndrome originally described by Niikawa et al. in 1981. A wide array of pathogenic variants and phenotypes have been described ever since. However, cases from Hispanic-Mexican populations evaluated with multimodal imaging are scarce. Therefore, the aim of this study is to report on the multimodal evaluation of a Hispanic-mexican case with a novel pathogenic variant. MATERIALS AND METHODS: Next generation sequencing was used to search for pathogenic variants in KMT2D in the proband and her parents and sibling. A full systemic and ophthalmological examination along with ancillary studies were undertaken. RESULTS: Only the proband had relevant findings and a compatible pathogenic variant in KMT2D. The systemic and ophthalmic phenotype correlates with previous reports of Kabuki syndrome. Ancillary studies of the retina, optic nerve, macular area, macular vascular flow and cornea were within normal limits. The novel detected pathogenic variant in the proband was c.6341del (p.Gly2114Alafs*30) in KMT2D. CONCLUSIONS: The present paper reports on a novel pathogenic variant in Kabuki syndrome. The multimodal imaging evaluation of the ophthalmic phenotype was within normal limits.
OBJECTIVE: Translate, culturally adapt, and validate the Ocular Surface Disease Index into Spanish for the Mexican population. METHODS: To ensure fluency and comprehensibility, we employed the Crawford and INFLEZS indexe...OBJECTIVE: Translate, culturally adapt, and validate the Ocular Surface Disease Index into Spanish for the Mexican population. METHODS: To ensure fluency and comprehensibility, we employed the Crawford and INFLEZS indexes. The Content Validity Coefficient was used to assess coherence, relevance, clarity, and sufficiency. Internal consistency was evaluated using Cronbach's Alpha Coefficient. RESULTS: A total of 372 participants were included in the study (63.4%, women; age ranged from 17 to 86 years). According to the INFLEZS readability index, symptom-related items achieved scores of 82.56, 72.69, 85.81, 73.24, and 74.24. Lifestyle-related items obtained scores of 71.39, 76.90, 58.27, and 72.56, while in the environmental domain, scores of 83.61, 74.03, and 58.93 were recorded. Using the Crawford index, symptom scores were 3.6, 4.6, 3.5, 4.1, and 3.8, lifestyle scores were 4.7, 4.1, 5.1, and 4.6, and environmental scores were 3.7, 4.4, and 5.7. The Cronbach's alpha coefficient was 0.868. Based on the scores from the OSDI questionnaire, patients were categorized as having no dry eye (n = 129), mild dry eye (n = 99), moderate (n = 45), and severe dry eye (n = 99). CONCLUSIONS: This study developed and validated the Mexican version of the Ocular Surface Disease Index, while assessing its reliability and internal consistency. With this tool, ophthalmologists and researchers alike will be able to assess and monitor Mexican-Spanish-speaking patients with dry eye in their routine clinical practice and future research.
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a rare but severe genetic disorder that causes pigmentary chorioretinopathy. We present the case of a 20-year-old female patient diagnosed with LCHAD by ne...Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a rare but severe genetic disorder that causes pigmentary chorioretinopathy. We present the case of a 20-year-old female patient diagnosed with LCHAD by neonatal screening with alteration of the retinal pigment epithelium (RPE) since the age of 3 years. Fundus examination showed a salt-and-pepper speckled granular pattern and diffuse peripheral chorioretinal atrophy. The patient is stable, visually asymptomatic and with good systemic control after more than 15 years of follow-up with retinography, optical coherence tomography (OCT), autofluorescence (FAF) and electroretinogram (ERG), essential for control. This case highlights the importance of early diagnosis and treatment to prevent decompensation and improve survival and progression.
A 73-year-old male with disabling torticollis. He suffered a severe traumatic head injury when he had 36 years old, affecting multiple cranial nerves, including III, IV and VI bilaterally. On actual examination he presen...A 73-year-old male with disabling torticollis. He suffered a severe traumatic head injury when he had 36 years old, affecting multiple cranial nerves, including III, IV and VI bilaterally. On actual examination he presented a large torticollis left head turn that compensates the diplopía. In the right eye, -4 limitation of adduction, -1 limitation of elevation and horizontal nystagmus on abduction. In the left eye, -6 limitation of abduction, -2 limitation of adduction, -1 limitation of elevation and -2 limitation of depression (0-8 scale). The right eye underwent Nasal Nishida procedure and the left eye underwent a Temporal Nishida. One year after the surgery the patient was no longer maintaining a head turn but had a mild tilt to the right and inttermitent diplopía. Nishida procedure can be a good option in cases of complex bilateral oculomotor paralysis.