Merkel cell carcinoma (MCC) of the eyelid is an uncommon but highly aggressive neuroendocrine malignancy characterised by rapid growth, early locoregional and distant spread, and a high rate of recurrence. We present a s...Merkel cell carcinoma (MCC) of the eyelid is an uncommon but highly aggressive neuroendocrine malignancy characterised by rapid growth, early locoregional and distant spread, and a high rate of recurrence. We present a series of four cases of palpebral MCC to highlight clinical presentation, histopathological features, treatment approaches, and clinical outcomes. Patients exhibited rapidly progressive eyelid tumours with variable degrees of local invasion. Histopathological analysis confirmed neuroendocrine carcinoma with an immunohistochemical profile characteristic of MCC, including CK20 positivity in a perinuclear dot-like pattern and expression of neuroendocrine markers. Management included surgical excision with reconstructive procedures and, in selected cases, adjuvant radiotherapy. Clinical evolution varied, reflecting the heterogeneous behaviour of this tumour. This case series emphasises the importance of early recognition, accurate histopathological diagnosis, and a multidisciplinary approach for optimal management of eyelid MCC.
This narrative review deals with dry eye disease (DED), a multifactorial disorder with varied prevalence worldwide, affecting the ocular surface constituents, and commonly associated to inflammation. Changes induced by D...This narrative review deals with dry eye disease (DED), a multifactorial disorder with varied prevalence worldwide, affecting the ocular surface constituents, and commonly associated to inflammation. Changes induced by DED provoke tear-film instability and a range of clinical manifestations, from soreness, blurred vision, to severe complications and loss of quality-of-life. Diet, nutrition and nutraceuticals have been identified as intervention targets for better managing DED pathophysiology. To gain knowledge in nutritional requirements and how to modify the diet based on the necessities by means of nutritional genetics, is an excellent approach to the above issues. Molecular-genetic tools, specifically omics sciences in relation to food, diet, and nutritional genetics in DED, are the main purpose of this work. Between July- November 2025 we accessed the following databases: PubMed, Web of Science, Scopus, and Cochrane library, by using the keywords: diet OR natural food OR nutrition OR nutritional genetics OR nutrigenetics OR nutrigenomics OR omics sciences OR personalized diet AND dry eye disease OR dry eye disorder OR ocular surface disease. According to selection criteria, and a refined evaluation, 238 studies were finally found eligible for this review. DED-related topics included in this work were: (1) Diets, food, and nutrients, (2) Nutritional genetics. (3) Dietary recommendations for DED, and (4) Final remarks and conclusions. Using new omics technologies, including nutrigenetics, nutrigenomics, epigenetics and epigenomics, and metabolomics, the influence of diet and nutrition on DEDs are becoming clearer. However, knowledge of the interplay between food, nutritional genetics and DED is just beginning to emerge.
This study examined whether name characteristics influence citation counts in ophthalmology. This was done by assessing 5407 papers published between 2015 and 2020 in four ophthalmology journals. Analyses of first and la...This study examined whether name characteristics influence citation counts in ophthalmology. This was done by assessing 5407 papers published between 2015 and 2020 in four ophthalmology journals. Analyses of first and last authors' names considered factors such as length, consonant sequences, alphabetical order, and popularity. After controlling for the year of publication, the number of authors, and the type of publication, only one association was found to be statistically significant; specifically, that the longer a consonant sequence was in the first-author's forename the more citations their publication received. Future research could address broader datasets and additional academic outcomes.
We report the first pediatric case with molecular confirmation of TYR-related oculocutaneous albinism type 1 and FBN1-associated Marfan syndrome. The patient exhibited high myopia, diffuse myopic chorioretinopathy, bilat...We report the first pediatric case with molecular confirmation of TYR-related oculocutaneous albinism type 1 and FBN1-associated Marfan syndrome. The patient exhibited high myopia, diffuse myopic chorioretinopathy, bilateral foveal hypoplasia, and electrophysiologic evidence of optic pathway misrouting. Systemic findings included tall stature, mild scoliosis, and marfanoid features. Pathogenic variants were confirmed in both TYR and FBN1.The coexistence of these traditionally unrelated disorders broadens the phenotypic spectrum of both OCA1 and Marfan syndrome and suggests the potential involvement of shared or interacting pathways linking melanogenesis and extracellular matrix biology. This case highlights the importance of comprehensive genomic testing and multidisciplinary evaluation in patients with atypical ocular presentations and supports consideration of dual genetic diagnoses when a single gene defect does not adequately account for the clinical phenotype.
Phenylketonuria is a metabolic disorder in which structural retinal alterations have been reported and may interfere with the interpretation of diagnostic tests for glaucoma. We report the case of a 59-year-old woman wit...Phenylketonuria is a metabolic disorder in which structural retinal alterations have been reported and may interfere with the interpretation of diagnostic tests for glaucoma. We report the case of a 59-year-old woman with phenylketonuria who was under follow-up for suspected glaucoma and presented with an intraocular pressure of 22 mmHg in the right eye and 50 mmHg in the left eye. Optical coherence tomography showed thinning of the retinal nerve fiber layer in the inferior sector, without corresponding visual field defects. Despite maximal medical therapy-adjusted in light of her systemic condition-adequate intraocular pressure control was not achieved, and the patient required phacoemulsification combined with non-penetrating deep sclerectomy. This case underscores the need for an individualized approach to the diagnosis and follow-up of glaucoma in patients with phenylketonuria, as well as heightened caution in therapeutic management.
Ciliary body medulloepithelioma is a rare ocular tumor with variable clinical presentation that may delay diagnosis. We report four cases evaluated at our centre, highlighting clinical features, imaging findings, and his...Ciliary body medulloepithelioma is a rare ocular tumor with variable clinical presentation that may delay diagnosis. We report four cases evaluated at our centre, highlighting clinical features, imaging findings, and histopathological correlation. Patients presented with diverse initial signs, including decreased visual acuity, ocular pain, and secondary glaucoma. Management included enucleation and orbital exenteration in one case. Histopathological analysis confirmed both teratoid and non-teratoid variants, demonstrating neuroepithelial proliferation, rosette formation, and, in some cases, mesenchymal components. Clinicopathological correlation was essential to establish the definitive diagnosis and guide therapeutic decision-making. These cases underscore the importance of considering medulloepithelioma in the differential diagnosis of any child presenting with unilateral neovascular glaucoma and an apparently normal fundus, emphasising the need for meticulous ophthalmic evaluation for early detection.
INTRODUCTION AND OBJECTIVES: To assess the outcomes of intrastromal corneal ring segment (ICRS) implantation using a femtosecond laser for the correction of high mixed or compound myopic astigmatism. PATIENTS AND METHODS...INTRODUCTION AND OBJECTIVES: To assess the outcomes of intrastromal corneal ring segment (ICRS) implantation using a femtosecond laser for the correction of high mixed or compound myopic astigmatism. PATIENTS AND METHODS: This retrospective study included 38 eyes from 24 patients with mixed or compound myopic astigmatism ≥4.00 D who underwent Ferrara-type ICRS implantation. Manifest refraction, uncorrected distance visual acuity (UDVA), and corrected distance visual acuity (CDVA) (logMAR), as well as corneal topography, were recorded preoperatively and at 12 months postoperatively. RESULTS: The refractive cylinder decreased from -6.31 ± 1.69 D preoperatively to -1.57 ± 0.75 D postoperatively (P < 0.0001). In cases with mixed astigmatism, the refractive sphere decreased from +3.65 ± 2.21 D to +1.34 ± 1.70 D (P < 0.0001). By contrast, in eyes with compound myopic astigmatism, the refractive sphere increased from -3.55 ± 3.04 D to -4.31 ± 3.23 D (P = 0.003). The mean UDVA (logMAR) significantly improved from 0.90 ± 0.27 preoperatively to 0.38 ± 0.29 postoperatively (P < 0.0001). The mean CDVA (logMAR) changed from 0.10 ± 0.13 to 0.07 ± 0.08 after surgery (P = 0.008). Postoperative UDVA was significantly better in cases with mixed astigmatism compared with compound myopic astigmatism (0.31 ± 0.20 vs 0.63 ± 0.36 logMAR; P < 0.0001). However, no differences were observed in CDVA (0.06 ± 0.08 vs 0.08 ± 0.08 logMAR; P = 0.2). CONCLUSIONS: The outcomes of this study support the viability of Ferrara-type ICRS implantation as a surgical alternative for reducing high astigmatism to low-to-moderate levels. Astigmatism reduction is accompanied by a decrease in the refractive sphere in mixed astigmatism and an increase in compound myopic astigmatism.
We present the case of a 64-year-old male who had previously undergone surgery for an apocrine carcinoma of the right lacrimal gland, which presented with metastatic spread in the parotid gland and cervical lymph nodes,...We present the case of a 64-year-old male who had previously undergone surgery for an apocrine carcinoma of the right lacrimal gland, which presented with metastatic spread in the parotid gland and cervical lymph nodes, with subsequent mediastinal and pulmonary lymph node recurrence of a carcinoma with apocrine differentiation expressing androgen receptors in complete response to androgen deprivation therapy.
Myeloid sarcoma (MS) is a rare extramedullary tumor composed of immature myeloid cells that may occur in association with acute myeloid leukemia (AML). It is more common in children than in adults, and the orbit represen...Myeloid sarcoma (MS) is a rare extramedullary tumor composed of immature myeloid cells that may occur in association with acute myeloid leukemia (AML). It is more common in children than in adults, and the orbit represents one of the most frequent sites of involvement. When MS presents as an isolated lesion or precedes the diagnosis of AML, accurate diagnosis may be challenging, potentially delaying treatment and adversely affecting prognosis. We report a case of orbital myeloid sarcoma as the initial manifestation of acute myeloid leukemia in a previously healthy pediatric patient with a rapidly progressive clinical course.
Peripheral exudative hemorrhagic chorioretinopathy (PEHCR) is a rare entity consisting of lesions similar to those of age-related macular degeneration (AMD) and type 1 aneurysmal neovascularization (N1a), but located out...Peripheral exudative hemorrhagic chorioretinopathy (PEHCR) is a rare entity consisting of lesions similar to those of age-related macular degeneration (AMD) and type 1 aneurysmal neovascularization (N1a), but located outside the macular region in the peripheral retina. We present the case of an 89-year-old woman who presented to the emergency department with loss of visual acuity (VA) in both eyes (OU) due to a massive macular subretinal hemorrhage in the right eye (OD) and a vitreous hemorrhage in her left eye (OS), accompanied in both eyes by peripheral hemorrhagic retinal pigment epithelium detachments (hPED). Ophthalmological examination and multimodal imaging led to the diagnosis of PEHCR. This case highlights the importance of the differential diagnosis of PEHCR from other vascular and neoplastic pathologies in order to avoid unnecessary tests and treatments. Early recognition and diagnosis are essential for establishing appropriate management, with intravitreal injections of anti-vascular endotelial groth factors (anti-VEGF) being recommended in cases with loss of VA or threat thereof. This case also contributes to the limited published literature on bilateral PEHCR, reinforcing the need to consider this pathology in elderly patients with peripheral hemorrhagic lesions.
The Kayser- Fleischer Ring (KFR) is a characteristic, though not pathognomonic, feature of Wilson's disease (WD). It arises from copper deposition in Descemet's membrane and may exhibit a range of hues, including yellow-...The Kayser- Fleischer Ring (KFR) is a characteristic, though not pathognomonic, feature of Wilson's disease (WD). It arises from copper deposition in Descemet's membrane and may exhibit a range of hues, including yellow-green, dull red, bright green, or blue. We report the case of a 58-year-old female patient in whom, in addition to copper deposition, optical coherence tomography (OCT) revealed leucomatous alterations in the corneal stroma adjacent to the deposit. Early recognition of this clinical sign plays a crucial role in the diagnosis of WD, in which timely identification is essential to reducing morbidity. In this study, we discuss the value of different diagnostic modalities for the detection and monitoring of this clinical sign and propose that copper toxicity may induce irreversible changes in the peripheral corneal stroma.
According to the World Health Organization (WHO), chronic vitamin A deficiency is the leading preventable cause of childhood blindness. Patients with autism spectrum disorder (ASD) represent a high-risk group because the...According to the World Health Organization (WHO), chronic vitamin A deficiency is the leading preventable cause of childhood blindness. Patients with autism spectrum disorder (ASD) represent a high-risk group because they may present eating disorders that lead to severe nutritional deficiencies. We present the case of a pediatric patient diagnosed with ASD who developed xerophthalmia and bilateral optic neuropathy in the context of vitamin A deficiency, associated with vitamin B12 deficiency and anemia, who was managed and followed up through a multidisciplinary approach. The aim of this work is to present a case report accompanied by a literature review to contextualize it, compare it with previously described cases in the scientific literature, and highlight its relevance in diagnostic and therapeutic management.
BACKGROUND AND OBJECTIVE: Intravitreal injections are the most frequently performed intraocular procedure in ophthalmology; however, limited data exist regarding their organizational implementation in Spain. This study e...BACKGROUND AND OBJECTIVE: Intravitreal injections are the most frequently performed intraocular procedure in ophthalmology; however, limited data exist regarding their organizational implementation in Spain. This study evaluated the current status of intravitreal therapy in Spanish hospitals and clinics. METHODS: A structured national survey comprising 46 questions grouped into nine thematic sections was conducted. The survey was voluntarily distributed using a nonprobability sampling strategy through professional networks across Spain. Duplicate responses were excluded. RESULTS: A total of 172 responses were received, of which 129 unique responses were analyzed. Most centers (89.84%) lacked formal agreements with primary care. However, 64.34% reported having referral protocols from outpatient clinics, and 66% had written protocols for managing macular diseases. Only 39.53% had a dedicated intravitreal therapy unit, whereas an additional 33% reported nursing or administrative coordination specifically assigned to intravitreal therapy. Only 27.81% had an efficient system for reviewing clinical outcomes of intravitreal injections, and 6% used artificial intelligence systems for optical coherence tomography analysis. Patient safety was a shared concern, and most centers reported safety incidents. CONCLUSIONS: Intravitreal therapy delivery in Spain demonstrates substantial organizational variability. No relevant differences were observed between public and private sectors. Areas for improvement include coordination with primary care, implementation of standardized protocols, and equitable access to resources.
To describe the value of the "white crescent sign" as a gonioscopic reference for accurate implantation of the iStent W device. The ab interno surgical technique using the Swan-Jacob direct gonioscopy lens is described....To describe the value of the "white crescent sign" as a gonioscopic reference for accurate implantation of the iStent W device. The ab interno surgical technique using the Swan-Jacob direct gonioscopy lens is described. Optical principles of coaxial visualization and the effects of peripheral aberrations and parallax in minimally invasive glaucoma surgery are analyzed. Central and coaxial visualization with the Swan-Jacob lens produces a bright reflection over the trabecular meshwork, termed the "white crescent sign." This sign confirms appropriate alignment, minimizes distortion, and enables identification of the optimal anatomical implantation zone (the thickest portion of the crescent), thereby reducing parallax error. The white crescent sign is a reliable intraoperative marker that enhances anatomical precision during iStent W implantation and may reduce surgical error.
We report the case of a 41-year-old woman with a choroidal nevus exhibiting recognized risk factors for malignant transformation who demonstrated spontaneous and progressive regression over a 6-year follow-up period. Spo...We report the case of a 41-year-old woman with a choroidal nevus exhibiting recognized risk factors for malignant transformation who demonstrated spontaneous and progressive regression over a 6-year follow-up period. Spontaneous involution is a well-established phenomenon in cutaneous lesions, including melanocytic nevi and cutaneous malignant melanoma, and has occasionally been described in choroidal melanoma. However, spontaneous regression of choroidal nevus is exceedingly rare, with only 2 cases previously reported in the literature. The underlying mechanism is presumed to involve an immune-mediated response driven by melanocyte-specific T lymphocytes, predominantly cytotoxic CD8+ T cells.