Limbal stem cell transplantation: clinical results, limits, and perspectives

Limbal stem cell deficiency (LSCD) is a clinical condition characterized by damage of cornea limbal stem cells, which results in an impairment of corneal epithelium turnover and in an invasion of the cornea by the conjunctival epithelium. In these patients, the conjunctivalization of the cornea is associated with visual impairment and cornea transplantation has poor prognosis for recurrence of the conjunctivalization. Current treatments of LSCD are aimed at replacing the damaged corneal stem cells in order to restore a healthy corneal epithelium. The autotransplantation of limbal tissue from the healthy, fellow eye is effective in unilateral LSCD but leads to depauperation of the stem cell reservoir. In the last decades, novel techniques such as cultivated limbal epithelial transplantation (CLET) have been proposed in order to reduce the damage of the healthy fellow eye. Clinical and experimental evidence showed that CLET is effective in inducing long-term regeneration of a healthy corneal epithelium in patients with LSCD with a success rate of 70%-80%. Current limitations for the treatment of LSCD are represented by the lack of a marker able to unequivocally identify limbal stem cells and the treatment of total, bilateral LSCD which requires other sources of stem cells for ocular surface reconstruction

Extraocular muscle sampled volume in Graves' orbitopathy using 3-T fast spin-echo MRI with iterative decomposition of water and fat sequences

Abstract Background: Current magnetic resonance imaging (MRI) techniques for measuring extraocular muscle (EOM) volume enlargement are not ideally suited for routine follow-up of Graves’ ophthalmopathy (GO) because the difficulty of segmenting the muscles at the tendon insertion complicates and lengthens the study protocol. Purpose: To measure the EOM sampled volume (SV) and assess its correlation with proptosis. Material and Methods: A total of 37 patients with newly diagnosed GO underwent 3-T MRI scanning with iterative decomposition of water and fat (IDEAL) sequences with and without contrast enhancement. In each patient, the three largest contiguous coronal cross-sectional areas (CSA) on the EOM slices were segmented using a polygon selection tool and then summed to compute the EOM-SV. Proptosis was evaluated with the Hertel index (HI). The relationships between the HI value and EOM-SV and between HI and EOM-CSA were compared and assessed with Pearson’s correlation coefficient and the univariate regression coefficient. Inter-observer and intra-observer variability were calculated. Results: HI showed a stronger correlation with EOM-SV (P<0.001; r¼0.712, r2¼0.507) than with EOM-CSA (P<0.001; r¼0.645 and r2¼0.329). The intraclass correlation coefficient indicated that the inter-observer agreement was high (0.998). The standard deviation between repeated measurements was 1.9–5.3%. Conclusion: IDEAL sequences allow for the measurement EOM-SV both on non-contrast and contrast-enhanced scans. EOM-SV predicts proptosis more accurately than does EOM-CSA. The measurement of EOM-SV is practical and reproducible. EOM-SV changes of 3.5–8.3% can be assumed to reflect true volume changes

Development and preliminary validation of a new screening questionnaire for identifying atopic children

Background: Allergic diseases represent a frequent and increasing condition affecting children. A screening questionnaire allowing an easy identification of children with symptoms of allergic diseases may improve management and clinical outcome. The aim of this study was to develop and validate an easy-to-use screening questionnaire to detect children requiring further allergological evaluations. Methods: A 10-item questionnaire, evaluating the presence and the history of the most frequent allergic conditions affecting children, including allergic asthma, allergic rhinitis and conjunctivitis, food allergy, and atopic dermatitis, was developed and administered to 214 parents of children from 5 to 10 years of age (163 with allergic disease and 51 healthy, nonallergic children). Validation was performed by Pearson's correlation between the clinical diagnosis and the responses to the questionnaire. Internal consistency was computed by Cronbach's alpha correlation coefficient. Sensitivity and specificity of the novel questionnaire were assessed by the receiver operating characteristic (ROC) curve. Results: Validation analysis of the new children atopy (ChAt) questionnaire showed good internal consistency with a Cronbach's alpha of 0.757. Responses to the items evaluating the presence of individual allergic conditions significantly correlated with the clinical diagnosis (p<0.001). The ROC curve showed an area of 0.956 and identified a cutoff value >2 of the ChAt questionnaire total score for detection of allergy (sensitivity =0.92 and specificity =0.902). Conclusion: The novel ChAt questionnaire represents a simple tool able to detect the presence of all major allergic diseases in a pediatric population allowing an early identification of allergic multimorbidity and potentially facilitating clinical management

Ocular manifestations of Sturge–Weber syndrome: pathogenesis, diagnosis, and management

Sturge-Weber syndrome has been included in the group of phakomatoses that is characterized by hamartomas involving the brain, skin, and eyes. The characteristic facial port-wine stain, involving the first branch of the trigeminal nerve and the embryonic vasculature distribution in this area, leads to several ocular complications of the anterior segment and can involve the eyelids and conjunctiva. The posterior segment of the eyes is also affected with diffuse choroidal hemangiomas. However, the most frequent ocular comorbidity is glaucoma with a prevalence rate ranging from 30%-70%. Glaucoma is related to anterior chamber malformations, high episcleral venous pressure (EVP), and changes in ocular hemodynamics. Glaucoma can be diagnosed at birth, but the disease can also develop during childhood and in adults. The management of glaucoma in Sturge-Weber syndrome patients is particularly challenging because of early onset, frequently associated severe visual field impairment at the time of diagnosis, and unresponsiveness to standard treatment. Several surgical approaches have been proposed, but long-term prognosis for both intraocular pressure control and visual function remains unsatisfactory in these patients. Choroidal hemangiomas may also lead to visual impairment thorough exudative retinal detachment and macular edema. Treatment of exudative hemangioma complications is aimed at destructing the tumor or decreasing tumor leakage

Vascular endothelial growth factor (VEGF) serological and lacrimal signaling in patients affected by vernal keratoconjunctivitis (VKC)

Background. Vernal keratoconjunctivitis (VKC) is a rare inflammatory disease involving the ocular surface, with seasonally exacerbated symptoms. Both type-1 and type-4 hypersensitivity reactions play a role in the development of VKC. Purpose. The aim of the present study was to assess the presence and evaluate the concentration of the vascular endothelial growth factor (VEGF) in tear and blood samples from patients with VKC, during the acute phase, based on the histopathological vasculostromal structure of the tarsal papillae. Methods. Two groups of children aged between 6 and 16 years of life were enrolled: 21 patients (16 males, 76%) affected by VKC, tarsal or mixed form, and 13 healthy children (5 males, 38%) used as controls. Blood and tear samples were obtained from all patients, in order to specifically assess the presence of VEGF. Statistical analyses were performed with one-way ANOVA, followed by post hoc comparisons with the Bonferroni tests. Pearson's correlation was chosen as statistical analysis to assess the relationship between the expression levels of VEGF in tears and blood and the clinical parameters measured. Results. Comparing the 2 groups for VEGF concentration, a statistically significant difference was found in tear samples: the mean value was 12.13 pg/mL (±5.54 SD) in the patient group and 7 pg/ml (±4.76 SD) in controls (p<0.05). However, no statistically significant difference was found when comparing VEGF concentration in blood samples (p>0.05), with a mean value of 45.17 pg/mL (±18.67 SD) in VKC patients and 38.08 pg/mL (±19.43 SD) in controls. Conclusions. This pilot study highlights the importance of lacrimal and vascular inflammatory biomarkers that can be detected in VKC patients during the acute phase, but not in healthy children. The small group of patients warrants additional studies on a larger sample, not only to further investigate the role of VEGF but also to evaluate the angiogenic biomarkers before and after topical treatment

Special issue on prevention and treatment of medical diseases in vulnerable populations

Several specific groups within the world’s population have shown that they are par ticularly vulnerable to quality health care problems, differential experiences in the health system or increased burden of ill health. Among others, these groups include the poor, the elderly, women, children, those living with mental or physical disabilities, racial and ethnic minorities, and migrants. The vulnerability that these groups experience can usually be attributed to one or a combination of the following factors: economic status, geographical location, health status, or ability to communicate

Reliability and reproducibility of an Italian questionnaire on “Knowledge of high social impact Eye Diseases” (KED-IT)

Background Health literacy plays an important role in public health. Although this has been demonstrated in the field of ophthalmology, there are very few specific instruments available to assess eye health literacy. This work aims to develop an Italian questionnaire on knowledge of eye diseases (Knowledge on Eye Disease, Italian version; KED-IT) and to evaluate its reliability and reproducibility. The KED-IT focuses on diseases with high social impact, specifically glaucoma, macular degeneration, diabetic retinopathy and keratoconus, which is the main cause of corneal transplant in Italy. Methods A cross-sectional study was conducted. The KED-IT was self-administered by the study participants twice. The interval between each administration (T0 and T1) was 5 to 8 days. Reliability was assessed using the KR-20 coefficient. The test-retest Cohen’s Kappa coefficient was estimated to measure the stability and reproducibility of the results obtained between T0 and T1. Results A total of 60 subjects participated in the study. The response rate at T1 was 92%. The KR-20 reliability coefficient of the 14-item KED-IT questionnaire was good with a value of 0.878. The Cohen’s kappa value for all 14 items of the KED-IT questionnaire was k = 0.747, indicating good agreement. Conclusions The KED-IT is the first specific ophthalmic knowledge questionnaire validated in the Italian language and we hope that it may be a starting point for the study of eye health literacy in the Italian population

Anterior segment optical coherence tomography for the tailored treatment of Mooren’s ulcer: a case report

Background: Mooren’s ulcer (MU) is a rare and debilitating form of peripheral ulcerative keratitis (PUK), characterized by a crescent-shaped ulcer with a distinctive overhanging edge at the corneal periphery. If left untreated, MU can lead to severe complications such as corneal perforation and blindness. Despite various treatment approaches, including anti-inflammatory and cytotoxic drugs, as well as surgical interventions, there is no clear evidence of the most effective treatment due to the lack of randomized controlled trials. AS-OCT is a non-invasive imaging technique that provides high-resolution cross-sectional images of the anterior segment, allowing for accurate evaluation of corneal ulcer characteristics, including depth, extent, and disease progression. Methods: We present the case of a 20-year-old male patient with MU managed using a stepladder approach, which included local and systemic corticosteroids, limbal conjunctival resection, and Cyclosporine A 1% eye drops. The patient underwent consecutive AS-OCT examinations and strict follow-up to tailor systemic and topical therapy. Results: Complete healing of the corneal ulcer with resolution of the inflammatory process was achieved. There was no recurrence of the disease at the 7-month follow-up. AS-OCT demonstrated progressive reorganization and thickening of the stromal tissue until the complete recovery of stromal thickness. Conclusions: The AS-OCT imaging modality allowed for the accurate evaluation of corneal ulcer characteristics, facilitating informed decision-making regarding the use of systemic immunosuppression, surgical interventions, and local immunomodulation and providing detailed and precise assessment of disease progression. This approach enabled a tailored and effective treatment strategy for the patient and played a critical role in guiding the therapeutic approach

Bilateral angle recession and chronic post-traumatic glaucoma: a review of the literature and a case report

Ocular trauma affects millions of people worldwide and is a leading cause of secondary glaucoma. Angle recession is the main cause of post-traumatic glaucoma after blunt eye trauma, and it is usually unilateral. The aim of this paper is to investigate the possible causes of angle recession with a bilateral presentation. Airbag activation during traffic accidents is a likely cause to be ruled out, along with repeated head or eye trauma, due to contact sports or a history of physical abuse. These aspects can aid in early detection, appropriate management, and improved outcomes for patients with ocular trauma. Finally, we report the case of a 75-year-old Caucasian man who developed a bilateral angle recession after an airbag impact, with advanced glaucoma in the right eye and ocular hypertension in the left eye. To our knowledge, this is the first case in the literature of chronic post-traumatic glaucoma probably caused by an airbag

The co-occurrence of 22q11.2 deletion syndrome and epithelial basement membrane dystrophy: a case report and review of the literature

Background: 22q11.2 deletion syndrome (22q11.2DS) is a genetic disorder caused by the deletion of the q11.2 band of chromosome 22. It may affect various systems, including the cardiovascular, immunological, gastrointestinal, endocrine, and neurocognitive systems. Additionally, several ocular manifestations have been described. Results: We report a case of a 34-year-old female diagnosed with 22q11.2DS who presented with visual discomfort and foreign body sensation in both eyes. She had no history of recurrent ocular pain. A comprehensive ophthalmological examination was performed, including anterior segment optical coherence tomography and in vivo confocal microscopy. Overall, the exams revealed bilateral corneal map-like lines, dots, and fingerprint patterns, consistent with a diagnosis of epithelial basement membrane dystrophy (EBMD). In addition to presenting with this novel corneal manifestation for 22q11.2 DS, we review the ocular clinical features of 22q11.2DS in the context of our case. Conclusions: The EBMD may represent a new corneal manifestation associated with 22q11.2 syndrome, although the link between these conditions is unknown. Further research is warranted to investigate potentially shared genetic or molecular pathways to the understanding of the phenotypic variety observed among this rare syndrome