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PURPOSE: Crouzon syndrome is a congenital genetic disease caused by mutations of the FGFR2 gene on chromosome 10. It is usually inherited in an autosomal dominant pattern and is one of the most common types of craniosynostosis syndromes. This article focuses on the ophthalmology-related aspects of Crouzon syndrome in order to help diagnose and develop personalized treatment plans. METHODS: A combined systematic search of PubMed electronic database by using Boolean operators AND and OR was conducted, choosing the following keywords: "Crouzon", "craniosynostosis", " eye ", " oculus ", " ocular ", " ophthalmic ", " ophthalmologic ", " ophthalmology ", " globe ", " orbit ", " exophthalmos ", " exorbitism ", " keratopathy ", " visual " etc. After the initial screening of these articles, repetitive literatures were excluded. RESULTS: 47 articles were selected. This article introduces the ocular manifestations, possible pathogenesis and treatment progress in Crouzon syndrome. CONCLUSIONS: The incidence of ocular abnormalities in Crouzon syndrome is very high, such as shallow orbits, exophthalmos, hypertelorism, exposure keratopathy, strabismus, optic neuropathy, ametropia, glaucoma, etc. The pathogenesis of these ocular abnormalities is related to orbital deformities. Most of the treatments are aimed at compensating the abnormal anatomic structure at present.

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BACKGROUND: Hairy cell leukemia (HCL) is a rare indolent B-cell lymphoid malignancy. The majority of patients are asymptomatic and HCL is usually diagnosed incidentally during a routine blood cell count. In symptomatic patients, typical symptoms are related to pancytopenia and splenomegaly. In this review, we present rare clinical symptoms in patients with HCL. METHODS: A literature search was conducted of PubMed, Web of Science and Google Scholar for articles concerning hairy cell leukemia, leukemia cutis, bone lesions, neurological manifestations, pulmonary symptoms, ocular manifestations, cardiac manifestation and rare symptoms. Publications from January 1980 to August 2024 were scrutinized. Additional relevant publications were obtained by reviewing the references from the chosen articles. RESULTS: Extramedullary and extranodal manifestations of classic HCL are rare. However, leukemic involvement in the skin, bone, central nervous system, gastrointestinal tract, heart, kidney, liver, lung, ocular system and other organs have been reported.

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Connective tissue diseases (CTDs), including rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), Sjögren's syndrome, and systemic sclerosis (SSc), represent a diverse group of disorders characterized by abnormalities in the proteins that support tissues and organs. These diseases can affect multiple organ systems and are often associated with significant morbidity and mortality. The eyes are frequently affected among the various organ systems involved, with ocular manifestations ranging from benign conditions such as dry eye syndrome to severe, sight-threatening complications like scleritis, retinal vasculitis, and optic neuritis. Recognizing and managing these ophthalmologic implications is crucial for preventing severe complications, providing diagnostic clues, and improving patients' quality of life. This comprehensive review aims to elucidate the current knowledge and innovations related to the ophthalmologic implications of CTDs. It details the ocular manifestations associated with major CTDs, explores diagnostic approaches to identifying and differentiating these conditions, and discusses management strategies, including pharmacological and surgical interventions. Additionally, the review highlights recent advancements and emerging therapies in diagnosing and treating CTD-related ophthalmologic conditions. The review also addresses this field's challenges and future directions, emphasizing the importance of interdisciplinary collaboration and continuous research. By synthesizing the latest research and clinical insights, this review seeks to enhance the understanding of healthcare professionals regarding the interplay between CTDs and ocular health, ultimately contributing to improved patient care and outcomes.

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Background: Abusive head trauma (AHT) is a severe form of physical abuse leading to significant morbidity and mortality in children, often presenting with complex brain injuries. Among the varied manifestations, ophthalmologic presentations are critical yet underexplored, which may provide essential clues for early diagnosis and management, improving long-term visual and neurological outcomes. Objective: This study aims to explore the manifestation, management, and outcomes of AHT cases within a single center in China over a five-year period, with a focus on the importance of ophthalmologic evaluation in enhancing the diagnosis, management, and outcome predictions of AHT. Methods: A retrospective case series was conducted at a single institution, involving infants diagnosed with AHT from 2019 to 2023. Data on demographics, medical histories, and clinical management were collected. Ophthalmologic examinations including fundus photography, ocular B-scan ultrasound and fundus fluorescein angiography (FFA), were performed to evaluate retinal vasculature and identify peripheral ischemic retina (PIR). Statistical analyses were performed using SPSS ver. 26.0. Results: Eight AHT patients (16 eyes) were included in the study. Bilateral ocular involvement was observed in all patients, with 81.25% exhibiting retinal hemorrhages (RH). Other manifestations included retinal detachment (31.25%) and optic nerve atrophy (18.75%). Clinical interventions varied, with 68.75% of patients undergoing treatments such as laser photocoagulation and anti-vascular endothelial growth factor (VEGF) injections. Among all eyes, 75% showed resolution of RH. Despite treatment, some patients progressed to severe conditions such as retinal detachment (RD) and iris neovascularization (INV). Conclusion: This study emphasizes the importance of a multidisciplinary approach in the diagnosis and management of AHT, particularly by integrating ophthalmological perspectives into patient care. These findings contribute to the understanding of ophthalmologic presentations in AHT.

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Ocular manifestations often serve as critical indicators of underlying systemic diseases, providing valuable diagnostic and prognostic information. This comprehensive review aims to elucidate the complex interplay between ocular symptoms and systemic conditions, emphasising the importance of early recognition and interdisciplinary collaboration in patient management. The review encompasses various systemic diseases, including cardiovascular, autoimmune, infectious, neurological, endocrine, hematologic, genetic, dermatologic, gastrointestinal, hepatic, renal, and connective tissue disorders, highlighting their specific ocular manifestations. Diagnostic approaches, including ophthalmologic examination techniques, imaging modalities, and laboratory tests, are discussed to enhance diagnostic accuracy. Furthermore, the review outlines current management and treatment strategies, emphasising the need for a multidisciplinary approach to care. Emerging therapies and future research directions are also explored, underscoring the necessity of continued innovation in this field. This review aims to improve clinical practices, promote integrative healthcare, and ultimately enhance patient outcomes by providing a detailed overview of ocular manifestations in systemic diseases.

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BACKGROUND: Osteogenesis imperfecta (OI) is a connective tissue disorder in which the Type 1 collagen is defective. The eye is a structure rich in collagen Type 1 and is heavily impacted by the disease. Many vision-threatening eye diseases have been associated with OI. The onset of these diseases also tend to occur at an earlier age in individuals with OI. Despite the research on these risks, appropriate ophthalmological screening or care guidelines for individuals with OI remain unknown. As such, the purpose of this scoping review was to explore and describe existing ophthalmological screening and care guidelines to orient OI patient care. MAIN BODY: A scoping review based on the Joanna Briggs Institute (JBI) methodology was conducted. A search of databases (PubMed and Medline) was completed in consultation with a research librarian. A total of 256 studies were imported for screening. Primary sources matching the inclusion and exclusion criteria were screened, extracted, and analyzed using Covidence. CONCLUSION: A total of 12 primary articles met inclusion and exclusion criteria, containing case reports, case series and cohort studies. Despite the risk of blindness associated with the consequences of OI on the eye, the primary literature fails to provide detailed screening and care guidelines aimed at identifying disease early. We provide general recommendations based on the review findings to guide the ophthalmological care of patients with OI and call upon the experts to convene globally to create screening guidelines. Further investigations of ophthalmological screening are warranted to limit these vision-threatening risks with early detection and treatment. Standardized ophthalmological screening guidelines for OI remain an area for research.

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The recent rise in hand sanitizer use due to the COVID-19 pandemic has had a beneficial impact on stopping the spread of disease, but the potential negative implications of its overuse on the body and the microbiome have yet to be thoroughly reviewed. Epidermal layers absorb hand sanitizer from direct application to the skin, making them some of the most susceptible cells to the adverse effects of overuse. The increased usage of hand sanitizer can affect the variation, quantity, and diversity of the skin microflora, leading to conditions such as eczema, atopic dermatitis, and even systemic toxicity due to colonization of the skin with pathogenic bacteria. Due to the close-knit relationship between the skin and gut, the gastrointestinal system can also incur disruptions due to the negative effects on the skin as a result of excessive hand sanitizer use, leading to gut dysbiosis. Additionally, the accidental ingestion of hand sanitizer, and its abuse or misuse, can be toxic and lead to alcohol poisoning, which is an issue most commonly seen not only in the pediatric population but also in adolescents and adults due to aberrant recreational exposure. As a vulnerable body system, the eyes can also be negatively impacted by hand sanitizer misuse leading to chemical injury, visual impairment, and even blindness. In this review, we aim to highlight the variations in hand sanitizer formulation, the benefits, and how misuse or overuse may lead to adverse effects on the skin, gut, and eyes. In particular, we review the advantages and disadvantages of alcohol-based hand sanitizers (ABHSs) and non-alcohol-based hand sanitizers (NABHSs) and how the components and chemicals used in each can contribute to organ dysbiosis and systemic damage.

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INTRODUCTION: This study aimed to explore ocular manifestations in ANCA-associated vasculitis (AAV), focusing on granulomatosis with polyangiitis (GPA), eosinophilic granulomatosis with polyangiitis (EGPA), and microscopic polyangiitis (MPA) and to examine the associations with laboratory parameters and other systemic manifestations. METHODS: This retrospective study reviewed data from 533 AAV patients across two major Chinese medical centers from January 2016 to November 2023. Data including diagnosis, cranial manifestations of disease, ocular complications, and laboratory parameters were analyzed. Univariate and multivariable logistic regression analyses assessed associations across disease manifestations. Machine learning models were also utilized to predict the risk of retinal/eye involvement in AAV patients. RESULTS: Among 533 patients (210 GPA, 217 MPA, 99 EGPA, and 7 unclassified AAV), ocular complications were observed in 20.64% of them, with a distribution of 36.67% in GPA, 7.37% in MPA, and 18.18% in EGPA. The most common ocular manifestations included scleritis and retro-orbital mass/dacryocystitis, which were notably prevalent in GPA patients. Retinal involvement was observed in 9.09% of EGPA cases. The machine learning models yielded that eosinophil percentage (EOS%), high-sensitivity C-reactive protein (hsCRP), and CD4 + T cell/CD8 + T cell ratio (T4/T8) can predict retinal involvement. Furthermore, the white blood cell, EOS%, APTT, IgA, hsCRP, PR3-ANCA, and T4/T8 can predict eye involvement. CONCLUSION: Ocular manifestations are a prevalent complication across all forms of AAV. Predictive models developed through machine learning offer promising tools for early intervention and tailored patient care. This necessitates a multidisciplinary approach, integrating rheumatology and ophthalmology expertise for optimal patient outcomes.

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Posterior scleritis is a rare inflammatory eye condition affecting the posterior segments of the sclera and is more prevalent in females. Its clinical presentation, often nonspecific, includes ocular pain, headache, and vision loss. Misdiagnosis is common due to a lack of specific symptoms posing a potential threat to vision. The etiology is often tied to rheumatic diseases, such as rheumatoid arthritis (RA), systemic erythematous lupus (SLE), and anti-neutrophil cytoplasmic antibodies (ANCA)-associated vasculitis. Posterior scleritis poses diagnostic challenges, mimicking many other ocular conditions, hence necessitating a thorough clinical eye exam. Laboratory studies, including inflammatory markers and markers of rheumatic diseases, may identify underlying systemic diseases. Imaging, including B-scan ultrasound and magnetic resonance imaging (MRI), aids in accurate diagnosis. Treatment involves non-steroidal anti-inflammatory drugs (NSAID), as well as topical corticosteroids for mild disease and systemic corticosteroids for severe disease. Biologic therapy has become increasingly significant for refractory cases. A multidisciplinary approach involving ophthalmology and rheumatology is crucial in the management of this potential sight-threatening disease. This case report highlights a 46-year-old woman with a history of RA-associated posterior scleritis.

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Dengue fever (DF), which is caused by the dengue virus (DENV) and transmitted through Aedes mosquitoes, is well recognized for its systemic manifestations, with its ocular involvement gaining recent attention. We present a case of a 41-year-old Taiwanese female who developed acute macular neuroretinopathy (AMN) following a DF diagnosis related to DENV-1, emphasizing the need for awareness of this complication. The patient, with a history of completely resolved optic neuritis (ON) and comorbidities, experienced blurred vision on day 10 after the onset of DF. The ophthalmic examination revealed macular edema, ellipsoid zone (EZ) infiltration, and choriocapillaris involvement. Despite pulse therapy with corticosteroids, visual disturbances persisted, highlighting the challenge of managing ocular complications. Ocular manifestations in DF include hemorrhages, inflammation, and vascular complications. DF-associated AMN, a rare presentation, poses challenges in diagnosis and treatment response evaluation. While most patients recover spontaneously, some face persistent visual impairment, especially with AMN. Our case emphasizes the importance of recognizing ocular complications in DF, necessitating a multidisciplinary approach for optimal management and further research to delineate treatment strategies and outcomes.

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Eye examination plays an important role when living individuals are forensically investigated. The iris colour, retinal scans and other biometric features may be used for identification purposes while visual impairments may have legal implications in employment, driving and accidents. Ocular manifestations provide clues regarding substance abuse, poisoning and toxicity, and evidence of trauma, abuse or disease can be revealed along with psychological traits and lifestyle. Thus, the eye is a valuable tool in forensic investigations of living subjects, providing identifying characteristics along with health information. This review focuses on the medico-legal aspects of the eye's contribution when the living are subjected to forensic examination.

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Introduction: COVID-19 caused by SARS-CoV-2, commonly presents with symptoms such as fever and shortness of breath but can also affect other organs. There is growing evidence pointing to potential eye complications. In this article, we aim to systematically review the ocular manifestations of COVID-19. Methods: We conducted a systematic review to explore the ocular manifestations of COVID-19. We searched online databases including PubMed, Embase, Scopus, and Web of Science up to September 4, 2023. After a two-stage screening process and applying inclusion/exclusion criteria, eligible articles were advanced to the data extraction phase. The PRISMA checklist and Newcastle-Ottawa Scale (NOS) were used for quality and bias risk assessments. Results: We selected and extracted data from 42 articles. Most of the studies were cross-sectional (n = 33), with the highest number conducted in Turkey (n = 10). The most frequent ocular manifestation was conjunctivitis, reported in 24 articles, followed by photophobia, burning, chemosis, itching, and ocular pain. Most studies reported complete recovery from these manifestations; however, one study mentioned visual loss in two patients. Conclusion: In general, ocular manifestations of COVID-19 appear to resolve either spontaneously or with supportive treatments. For more severe cases, both medical treatment and surgery have been employed, with the outcomes suggesting that complete recoveries are attainable.

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BACKGROUND: To report ocular manifestations, clinical course, and therapeutic management of patients with molecular genetically confirmed keratitis-ichthyosis-deafness syndrome. METHODS: Four patients, aged 19 to 46, with keratitis-ichthyosis-deafness syndrome from across the UK were recruited for a general and ocular examination and GJB2 (Cx26) mutational analysis. The ocular examination included best-corrected visual acuity, slit-lamp bio-microscopy, and ocular surface assessment. Mutational analysis of the coding region of GJB2 (Cx26) was performed by bidirectional Sanger sequencing. RESULTS: All four individuals had the characteristic systemic features of keratitis-ichthyosis-deafness syndrome. Each patient was found to have a missense mutation, resulting in the substitution of aspartic acid with asparagine at codon 50 (p.D50N). Main ophthalmic features were vascularizing keratopathy, ocular surface disease, hyperkeratotic lid lesions, recurrent epithelial defects, and corneal stromal scarring. One patient had multiple surgical procedures, including superficial keratectomies and lamellar keratoplasty, which failed to prevent severe visual loss. In contrast, oral therapy with ketoconazole stabilized the corneal and skin disease in two other patients with keratitis-ichthyosis-deafness syndrome. The patient who underwent intracorneal bevacizumab injection showed a marked reduction in corneal vascularization following a single application. CONCLUSIONS: Keratitis-ichthyosis-deafness syndrome is a rare ectodermal dysplasia caused by heterozygous mutations in GJB2 (Cx26) with a severe, progressive vascularizing keratopathy. Oral ketoconazole therapy may offer benefit in stabilizing the corneal and skin disease.

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Since the introduction of combination antiretroviral therapy (cART) in Japan in 2008, the spectrum of ocular manifestations in patients with human immunodeficiency virus (HIV) has changed. This study, conducted at Tokyo Medical and Dental University Hospital between January 2012 and August 2023, aimed to understand the epidemiology and clinical features of ocular manifestations in patients with HIV during the cART era. Of the 218 patients diagnosed with HIV, 23 (10.55%) exhibited ocular manifestations; all were male, aged 32-73. The most prevalent ocular complication was uveitis (60.67%). Notably, the prevalence of uveitis in this cART era has surged compared to earlier Japanese studies. Our data also suggest a potential direct link between uveitis and HIV, particularly in patients who have not yet undergone cART. However, cytomegalovirus retinitis, another prevalent ocular disease in our study, appeared more strongly associated with patients who commenced cART. Neither ocular condition was significantly correlated with CD4+ T-cell count. Importantly, our observed ocular manifestation prevalence (10.55%) was lower than that in previous studies, emphasizing the potential influence of cART and national healthcare support. These findings provide unique insights into the evolution of ocular manifestations in patients with HIV in Japan amidst cART availability.

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Introduction: The prevalence of ocular abnormalities of COVID-19 is different according to different reports. However, currently available evidence on the presence of this virus in ocular secretions and its association with conjunctivitis is not well established. Objective: To reveal the ocular features among COVID-19 patients and to describe them with the findings of clinical data, inflammatory markers, and respiratory support therapy. Methods: Ocular symptoms were evaluated and recorded in 494 COV19 patients through questionnaire-style interviews, and an ophthalmologic examination. Data including age, sex, disease severity, and nasopharyngeal swab results were collected. Laboratory test values were reviewed. Patients with COVID-19 infections were classified into severe cases and mild cases. Results: The prevalence of ocular features was (2.83%). The most common features were conjunctival hyperaemia, epiphora, and foreign body sensation with itching. Patients with ocular manifestations on CPAP support therapy had higher rates of itching, lower rates of foreign body sensation. No differences were found in the levels of inflammatory marker. Meanwhile, patients used respiratory-aid therapy revealed higher values of white blood cells, platelet counts, erythrocyte sedimentation rate, C-reactive protein, ferritin, and lactate dehydrogenase. Discussion: Ocular involvement in COVID-19 and possibility of disease transmission through ocular tissues and secretions, has been registered in some reports, with a prevalence of 2-32%. The external and internal ocular parts are involved. Conclusion: Ocular features are not infrequent in COVID-19 patients.

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Rheumatic diseases are associated with a significant decline in quality of life, which is not only related to the progression of the underlying disease but also to the development of coexisting conditions. One of the possible complications in this group of diseases is ocular involvement. Impaired vision is strongly associated with a significant decline in quality of life and can also exacerbate problems related to physical functioning. Consequently, it can lead to serious complications in the treatment of the underlying disease. Additionally, from a clinical point of view, it is also important to note that ocular diseases may precede the occurrence of inflammatory joint and spinal diseases, as well as organ involvement in systemic connective tissue disorders. Therefore, paying attention to ocular symptoms can help in early diagnosis and thus improve patient prognosis. For the aforementioned reasons, ocular diseases should be carefully considered in routine rheumatologic practice.

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The aim of this case series and narrative literature review is to highlight the importance of multimodal imaging in the ophthalmological examination of patients with spinocerebellar ataxia type 7 and provide a summary of the most relevant imaging techniques. Three patients with SCA7 were included in this case series. A literature review revealed twenty-one publications regarding ocular manifestations of SCA7, and the most relevant aspects are summarized. The role of different imaging techniques in the follow-up of SCA7 patients is analyzed, including color vision testing, corneal endothelial topography, color fundus photography (CFP) and autofluorescence, near infrared reflectance imaging, spectral domain optical coherence tomography (SDOCT), visual field examination, and electrophysiological tests. SDOCT provides a rapid and non-invasive imaging evaluation of disease progression over time. Additional examination including NIR imaging can provide further information on photoreceptor alteration and subtle disruption of the RPE, which are not evident with CFP at an early stage. Electrophysiological tests provide essential results on the state of cone and rod dystrophy, which could be paramount in guiding future genetic therapies. Multimodal imaging is a valuable addition to comprehensive ophthalmological examination in the diagnosis and management of patients with SCA7.

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PURPOSE: Chikungunya is a re-emerging viral infection across the globe. The purpose of this article is to review the systemic and ophthalmic manifestations associated with chikungunya fever. METHOD: A review of literature was conducted using online databases. RESULTS: In this report, we have reviewed the presently available literature on uveitis caused by chikungunya and highlighted the current knowledge of its clinical manifestations, imaging features, laboratory diagnostics, and the available therapeutic modalities from the systemic and ophthalmic standpoint. CONCLUSIONS: Ocular involvement in chikungunya infection may occur at the time of systemic manifestations or it may occur as a delayed presentation many weeks after the fever. Treatment relies on a supportive therapy for systemic illness. Treatment of ocular manifestation depends on the type of manifestations and usually includes a combination of topical and oral steroids.

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Monkeypox virus (mpox), a double-stranded DNA virus belonging to the Orthopox genus, can affect vulnerable anatomic sites, including the eyes, causing a monkeypox-related ophthalmic disease. The mpox virus may enter the eye via autoinoculation and cause multiple problems from mild lesions including conjunctivitis, blepharitis, keratitis, to severe ones such as corneal ulcers, corneal scarring, and rarely loss of vision. The aim of this article is to aggregate from an ophthalmologic point of view what is presently known about mpox-related ophthalmic disease (mpoxROD) and to present a particular case of a 41-year-old, white, bisexual, HIV positive male, with severe ocular complications. This article presents the first reported case in Romania, of severe mpoxROD, with clinically relevant information for infectious disease doctors and especially for ophthalmologists.

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