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We reported a 10-year-old child who suffered from severe toxic epidermal necrolysis triggered by trimethoprim–sulfamethoxazole and managed successfully with multi-targeted therapy. He was jointly managed by a paediatric intensivist, a dermatologist, an otolaryngologist, a urologist, a wound nurse, a pain management specialist, a dietitian, and a clinical psychologist. Systemic intravenous immunoglobulin and pulsed-dose methylprednisolone were initiated after admission. Oral cyclosporin A was added in the early stage of the disease in view of severe ocular involvement with progressive inflammation of bilateral upper and lower eyelids, the presence of pseudomembrane, diffuse conjunctival injection, and progression of central epithelial defects in bilateral eyes. He underwent amniotic membrane transplantation. Subcutaneous injection of etanercept was added on the treatment to allow rapid tapering of steroids. Finally, the disease progression was halted with re-epithelisation on day 13. He experienced no side effects from the multi-targeted therapy and recovered well without clinical sequelae.

PurposeMethodsResultsConclusionThe aim of this study was to evaluate the prevalence, type and treatment outcomes of ocular involvement in patients with brucellosis.This prospective, single-center study enrolled patients admitted to the infectious disease outpatient clinic with diagnosed brucellosis between July 15, 2022 and July 15, 2023. Diagnosis was based on clinical symptoms and a standard Brucella tube agglutination test (≥1/160) or a positive blood culture. Ophthalmologic examinations were performed at baseline and in the first month of treatment. Third and sixth month follow-up examinations were also performed for patients with ocular findings.Ocular involvement occurred in 60 (24.8%) of 242 patients. Conjunctivitis was the most common ocular involvement and was observed in 39 patients (16.1%). Uveitis was the second most common ocular involvement in 14 patients (5.8%). Scleritis was the least common ocular involvement and was observed in only one patient. Patients with ocular involvement were older (p = 0.027) and had higher rates of weight loss and spondylodiscitis (p = 0.044 and 0.001, respectively). Among laboratory parameters, erythrocyte sedimentation rate and lactate dehydrogenase levels were significantly higher in patients with ocular involvement (p = 0.001 and 0.036, respectively). There were no significant differences in other demographic, clinical, and laboratory characteristics between patients with and without ocular involvement. In 56 (93.3%) patients, the ocular findings improved during the follow-up examination.Brucellosis, a systemic infection, can manifest with ocular involvement. Early detection and treatment through ophthalmological examination are crucial in managing brucellosis. [ABSTRACT FROM AUTHOR]

Systemic sclerosis (SSc) is a chronic autoimmune connective tissue disease that affects more than 2 million people worldwide. It manifests through vasculopathy, an abnormal immunological response, and fibrosis leading to dysfunction of the multiple organs. The disease is categorized into two subtypes: limited cutaneous SSc and diffuse cutaneous SSc. Scleroderma can affect vital organs with respiratory, cardiac, renal, ocular, and dermatological complications. The ocular manifestations of the disease can occur in the anterior and posterior segments of the eye. Changes in the anterior segment related to the disease include eyelid skin remodeling, dry eye syndrome, and conjunctival abnormalities. The disease's impact on the posterior segment of the eye mostly causes pathologies in the retinal microcirculatory system and abnormalities in the optic nerve. This review provides detailed insights into ocular complications associated with scleroderma. [ABSTRACT FROM AUTHOR]

La cryoglobulinémie de type 1 se manifeste par de nombreux signes cliniques dont le caractère peu spécifique peut rendre le diagnostic difficile. Les manifestations oculaires sont peu décrites dans la littérature. Seuls 15 cas d'atteintes ophtalmologiques secondaires à une cryoglobulinémie ont été rapportés. Nous rapportons le cas d'un patient de 69 ans atteint d'une cryoglobulinémie de type 1 cutanée. Il a présenté une ischémie du segment antérieur bilatérale sans atteinte rétinienne avec présence d'une néovascularisation unilatérale. Un traitement du clone lymphocytaire B par rituximab, bendamustine et des échanges plasmatiques ont été initiés avec succès. Deux cas similaires décrivant une atteinte ischémique irienne lors d'une cryoglobulinémie de type 1 ont été rapportés dans la littérature. L'ischémie irienne doit être considérée comme une atteinte potentielle des cryoglobulinémies de type 1. Type 1 cryoglobulinemia is characterized by a large number of clinical signs. The lack of specificity of these signs can make diagnosis difficult. Ocular manifestations are rarely described across medical literature. Only 15 cases of ophthalmological involvement secondary to cryoglobulinaemia have been reported. We report the case of a 69-year-old patient with cutaneous type 1 cryoglobulinaemia. He presented with bilateral anterior segment ischemia without retinal involvement with unilateral neovascularisation. Treatment of the B lymphocyte clone with rituximab and bendamustine and plasma exchange were initiated with successfully. Two similar cases describing ischaemic damage to the iris during type 1 cryoglobulinemia have been reported in the literature. Irial ischaemia should be considered as a potential in type 1 cryoglobulinaemia. [ABSTRACT FROM AUTHOR]

Chronic myelomonocytic leukemia (CMML) is a rare hematological disorder characterized by variable risk of evolution to acute myeloid leukemia; to date, allogeneic stem cell transplantation is the only curative treatment. We report a case of choroidal involvement in a woman affected by CMML and presenting only with visual impairment. The patient was initially evaluated for an intensive therapeutic approach, but after biopsy the ocular lesion spontaneously regressed. Thus a “watch and wait” strategy was preferred. One year and a half after initial diagnosis, the patient is alive, with stable hematological disease and without any ocular involvement. Therefore, a close, not invasive follow up could be useful to tailor treatment for patients affected by single ocular lesions in CMML.

Amir Akhavanrezayat,1 Wataru Matsumiya,1,2 Prapatsorn Ongpalakorn,1 Hashem H Ghoraba,1 Chris Or,1 Hassan Khojasteh Jafari,1 Gunay Uludag Kirimli,1 Cigdem Yasar,1 Ngoc Trong Tuong Than,1 Irmak Karaca,1 Moosa Zaidi,1 Azadeh Mobasserian,1 Negin Yavari,1 Vahid Bazojoo,1 Yong Un Shin,1 Albert John Bromeo,1 Quan Dong Nguyen1 1Spencer Center for Vision Research, Byers Eye Institute, Stanford University School of Medicine, Palo Alto, CA, USA; 2Department of Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe, JapanCorrespondence: Quan Dong Nguyen, Spencer Center for Vision Research, Byers Eye Institute at Stanford University, 2452 Watson Court, Suite 200, Palo Alto, CA, 94303, USA, Tel +1 650 723 9386, Email ndquan@stanford.eduPurpose: To report a case of neurosarcoidosis (NS) who was initially diagnosed as Coccidioidomycosis immitis (CI) infection.Observations: A 57-year-old diabetic man presented with sudden painless diminution of vision, metamorphopsia, and color vision deficits in the left eye (OS) for one month. His vision was 20/20 in the right eye (OD) and 20/40 OS. Ophthalmic examination revealed left relative afferent pupillary defect, blurred optic nerve margin, creamy chorioretinal infiltration around the optic disc, and mild macular edema. OD examination was non-revealing. Chest CT scan with contrast showed calcified mediastinal lymph nodes, but biopsy of the lymph nodes was normal. Brain and orbit MRI demonstrated soft tissue abnormality with enhancement in left orbital apex with involvement of the extraocular muscles. CSF culture was negative, but complement fixation had positive titer of 1:2 for CI. The patient was diagnosed with CI meningitis, and antifungal therapy was initiated. Slight visual and symptomatic improvement was observed, which was not completely satisfactory. Biopsy of extraocular orbital muscle five months later revealed non-caseating granulomatous inflammation, leading to initiation of prednisone trial therapy. Nine months later, the patient was referred to a tertiary center owing to persistence of optic disc edema OS. PET CT was consistent with a diagnosis of sarcoidosis. Antifungal treatment was discontinued, and oral prednisone with methotrexate was initiated. Subsequently, methotrexate was replaced by infliximab to further manage ocular inflammation and neurologic symptoms which was effective. Vision was 20/20 OD and 20/30 OS at the most recent visit.Conclusion and Importance: Signs and symptoms of neurosarcoidosis and coccidioidomycosis can be similar and deceiving. The index case underscores importance of considering appropriate differential diagnoses in patients with similar symptoms and signs who may respond to preliminary designated treatment but not to the optimal extent. Considering such possibility could assist clinicians in managing the patients timely and efficiently.Keywords: neurosarcoidosis, coccidioidomycosis, sarcoidosis, ocular involvement

Chronic myelomonocytic leukemia (CMML) is a rare hematological disorder characterized by variable risk of evolution to acute myeloid leukemia; to date, allogeneic stem cell transplantation is the only curative treatment. We report a case of choroidal involvement in a woman affected by CMML and presenting only with visual impairment. The patient was initially evaluated for an intensive therapeutic approach, but after biopsy the ocular lesion spontaneously regressed. Thus a "watch and wait" strategy was preferred. One year and a half after initial diagnosis, the patient is alive, with stable hematological disease and without any ocular involvement. Therefore, a close, not invasive follow up could be useful to tailor treatment for patients affected by single ocular lesions in CMML. [ABSTRACT FROM AUTHOR]

Chronic myeloid leukemia (CML) patients frequently exhibit systemic symptoms such as fatigue, abdominal discomfort, weight loss, and fever but rarely can have atypical initial presentation in the form of ophthalmic manifestations, which can precede the diagnosis of the primary malignancy. We describe a case of a 29-year-old male who presented in our ophthalmology out-patient department (OPD) with complaints of painless, diminution of vision, which was sudden in onset in right eye (RE) and loss of vision in left eye (LE) for four and seven days, respectively. There had been a history of loss of weight and appetite for the past 2 months. The visual acuity (VA) recorded was finger counting two meters in RE and perception of light in LE with an inaccurate projection of rays in both eyes (BE). The anterior segment evaluation of both eyes (BE) was normal. Fundus revealed multiple elevated yellow subretinal lesions with exudative detachment in the RE and no view in the LE. Ultrasound-Brightness (USG B) scan in the LE revealed multiple hyperreflective echoes likely vitreous hemorrhage. Optical coherence tomography (OCT) showed subretinal hyperreflectivity with surrounding edema in RE suggestive of leukemic infiltrates. On further systemic investigations, chronic myeloid leukemia-chronic phase (CML-CP) was detected; hence, the diagnosis of RE exudative retinal detachment (RD) and LE vitreous hemorrhage with CML-CP was made. Ophthalmic involvement is more often seen in acute than chronic leukemia, which makes the diagnosis challenging. We describe a unique case of a young patient with CML-CP who initially presented with ocular involvement preceding systemic diagnosis. This case report illustrates the importance of a primary care physician or an ophthalmologist in the early diagnosis and prompt management of hematological malignancy, as ophthalmic manifestations may be a rare initial presenting feature in CML-CP. These conditions require urgent referral to a hematologist by a primary care physician in the view of early commencement of therapy.

Brucellosis may affect the eye to varying degrees. The aim of this study was to investigate the ocular involvement of brucellosis and highlight key points. Published literature in English language on the ocular involvement of brucellosis within last 30 years was evaluated. The PubMed international database was screened using certain keywords. The study included 27 publications evaluating a total of 159 cases. The most common types of ocular involvement were uveitis (52.2%) and conjunctivitis (17.6%). Most cases had concomitant systemic brucellosis (27.7%), and the most commonly used diagnostic method was a serological test (92.4%). Of all the patients, 37.1% recovered with sequelae. Brucellosis may cause a wide range of ophthalmic manifestations, and an overlooked or late diagnosis may also lead to the development of sequelae or loss of vision. A routine ophthalmologic examination should be performed in all patients with systemic brucellosis. [ABSTRACT FROM AUTHOR]

Abstract Introduction Scientific evidence of the effectiveness of the tumor necrosis factor inhibitor adalimumab (ADA) in pediatric patients with non-infectious non-anterior uveitis is still limited. The aim of this study is to investigate the therapeutic role of ADA in a cohort of pediatric patients with non-anterior uveitis. Methods This is an international multicenter study analyzing real-life data referred to pediatric patients treated with ADA for intermediate uveitis/pars planitis, posterior uveitis and panuveitis. Data were drawn from the AutoInflammatory Disease Alliance (AIDA) registry for patients with uveitis. Results Twenty-one patients (36 affected eyes) were enrolled, and all patients benefited from ADA administration. In detail, 11 patients (19 affected eyes) did not experience further ocular inflammation after ADA introduction; 10 cases (17 affected eyes) showed a significant clinical improvement consisting of a decrease in severity and/or frequency of ocular relapses. The number of ocular flares dropped from 3.91 to 1.1 events/patient/year after ADA introduction (p = 0.0009); macular edema and retinal vasculitis were respectively observed in 18 eyes and 20 eyes at the start of ADA and in 4 eyes and 2 eyes at the last assessment. The mean daily glucocorticoid dosage significantly decreased from 26.8 ± 16.8 mg/day at the start of ADA to 6.25 ± 6.35 mg/day at the last assessment (p = 0.002). Intermediate uveitis/pars planitis (p = 0.01) and posterior uveitis (p = 0.03) were more frequently observed in patients with full response to ADA; panuveitis (p = 0.001) was significantly more frequent among patients continuing to experience uveitic flares. This could be related to a higher use of systemic glucocorticoids (p = 0.002) and conventional immunosuppressants (p = 0.007) at the start of ADA when treating intermediate uveitis/pars planitis. Regarding the safety profile, only one adverse event was reported during ADA treatment, consisting of the development of generalized adenopathy. Conclusions ADA proved to have an effective therapeutic role in all pediatric patients with non-anterior uveitis enrolled in the study. An overall glucocorticoid-sparing effect was observed despite the severity of cases enrolled. A more aggressive treatment of panuveitis and posterior uveitis at start of ADA could increase the likelihood of full response to therapy.

Granulomatosis with polyangiitis (GPA) is a primary vasculitis associated with antineutrophil cytoplasmic antibodies, characterized by necrotizing vasculitis with predominant involvement of small vessels of various localization and necrotizing granulomatous inflammation with multiple clinical manifestations. GPA remains one of the most severe and prognostically unfavorable systemic vasculitis. The second part of the article presents data on the differential diagnosis of the onset of the disease with the ocular and ear involvement, which requires an interdisciplinary approach and interaction between doctors of different specialties. In the refractory course of the local form of GPA, immunosuppressive therapy, including glucocorticoids and rituximab or cyclophosphamide, is advisable.

Systemic sclerosis (SSc) is a chronic autoimmune connective tissue disease that affects more than 2 million people worldwide. It manifests through vasculopathy, an abnormal immunological response, and fibrosis leading to dysfunction of the multiple organs. The disease is categorized into two subtypes: limited cutaneous SSc and diffuse cutaneous SSc. Scleroderma can affect vital organs with respiratory, cardiac, renal, ocular, and dermatological complications. The ocular manifestations of the disease can occur in the anterior and posterior segments of the eye. Changes in the anterior segment related to the disease include eyelid skin remodeling, dry eye syndrome, and conjunctival abnormalities. The disease’s impact on the posterior segment of the eye mostly causes pathologies in the retinal microcirculatory system and abnormalities in the optic nerve. This review provides detailed insights into ocular complications associated with scleroderma.

Introduction: Scientific evidence of the effectiveness of the tumor necrosis factor inhibitor adalimumab (ADA) in pediatric patients with non-infectious non-anterior uveitis is still limited. The aim of this study is to investigate the therapeutic role of ADA in a cohort of pediatric patients with non-anterior uveitis. Methods: This is an international multicenter study analyzing real-life data referred to pediatric patients treated with ADA for intermediate uveitis/pars planitis, posterior uveitis and panuveitis. Data were drawn from the AutoInflammatory Disease Alliance (AIDA) registry for patients with uveitis. Results: Twenty-one patients (36 affected eyes) were enrolled, and all patients benefited from ADA administration. In detail, 11 patients (19 affected eyes) did not experience further ocular inflammation after ADA introduction; 10 cases (17 affected eyes) showed a significant clinical improvement consisting of a decrease in severity and/or frequency of ocular relapses. The number of ocular flares dropped from 3.91 to 1.1 events/patient/year after ADA introduction (p = 0.0009); macular edema and retinal vasculitis were respectively observed in 18 eyes and 20 eyes at the start of ADA and in 4 eyes and 2 eyes at the last assessment. The mean daily glucocorticoid dosage significantly decreased from 26.8 ± 16.8 mg/day at the start of ADA to 6.25 ± 6.35 mg/day at the last assessment (p = 0.002). Intermediate uveitis/pars planitis (p = 0.01) and posterior uveitis (p = 0.03) were more frequently observed in patients with full response to ADA; panuveitis (p = 0.001) was significantly more frequent among patients continuing to experience uveitic flares. This could be related to a higher use of systemic glucocorticoids (p = 0.002) and conventional immunosuppressants (p = 0.007) at the start of ADA when treating intermediate uveitis/pars planitis. Regarding the safety profile, only one adverse event was reported during ADA treatment, consisting of the development of generalized adenopathy. Conclusions: ADA proved to have an effective therapeutic role in all pediatric patients with non-anterior uveitis enrolled in the study. An overall glucocorticoid-sparing effect was observed despite the severity of cases enrolled. A more aggressive treatment of panuveitis and posterior uveitis at start of ADA could increase the likelihood of full response to therapy. [ABSTRACT FROM AUTHOR]

To report a case of a boy with acute keratoplasty rejection manifesting 12 days after receiving BNT162b2 messenger RNA (mRNA) vaccine for COVID-19. A case report. A 15-year-old boy with a history of penetrating keratoplasty due to acanthamoeba keratitis developed corneal decompensation 12 days after BNT162b2 messenger RNA vaccine for COVID-19 disease. One-week treatment with topical Dexamethasone 2% eye drops resulted in a complete resolution of corneal edema. This case suggests that BNT162b2 messenger RNA (mRNA) vaccine can be associated with acute keratoplasty rejection in children, which responds completely to topical steroids. Ophthalmologists should be aware of this risk of cornea decompensation after COVID-19 vaccine in children who received a cornea transplant. [ABSTRACT FROM AUTHOR]

Chronic myeloid leukemia (CML) patients frequently exhibit systemic symptoms such as fatigue, abdominal discomfort, weight loss, and fever but rarely can have atypical initial presentation in the form of ophthalmic manifestations, which can precede the diagnosis of the primary malignancy. We describe a case of a 29-year-old male who presented in our ophthalmology out-patient department (OPD) with complaints of painless, diminution of vision, which was sudden in onset in right eye (RE) and loss of vision in left eye (LE) for four and seven days, respectively. There had been a history of loss of weight and appetite for the past 2 months. The visual acuity (VA) recorded was finger counting two meters in RE and perception of light in LE with an inaccurate projection of rays in both eyes (BE). The anterior segment evaluation of both eyes (BE) was normal. Fundus revealed multiple elevated yellow subretinal lesions with exudative detachment in the RE and no view in the LE. Ultrasound-Brightness (USG B) scan in the LE revealed multiple hyperreflective echoes likely vitreous hemorrhage. Optical coherence tomography (OCT) showed subretinal hyperreflectivity with surrounding edema in RE suggestive of leukemic infiltrates. On further systemic investigations, chronic myeloid leukemia-chronic phase (CML-CP) was detected; hence, the diagnosis of RE exudative retinal detachment (RD) and LE vitreous hemorrhage with CML-CP was made. Ophthalmic involvement is more often seen in acute than chronic leukemia, which makes the diagnosis challenging. We describe a unique case of a young patient with CML-CP who initially presented with ocular involvement preceding systemic diagnosis. This case report illustrates the importance of a primary care physician or an ophthalmologist in the early diagnosis and prompt management of hematological malignancy, as ophthalmic manifestations may be a rare initial presenting feature in CML-CP. These conditions require urgent referral to a hematologist by a primary care physician in the view of early commencement of therapy. [ABSTRACT FROM AUTHOR]

Abstract Stevens-Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN) are serious and rare diseases, most often drug-induced, and their incidence has been estimated at 6 cases/million/year in France. SJS and TEN belong to the same spectrum of disease known as epidermal necrolysis (EN). They are characterized by more or less extensive epidermal detachment, associated with mucous membrane involvement, and may be complicated during the acute phase by fatal multiorgan failure. SJS and TEN can lead to severe ophthalmologic sequelae. There are no recommendations for ocular management during the chronic phase. We conducted a national audit of current practice in the 11 sites of the French reference center for toxic bullous dermatoses and a review of the literature to establish therapeutic consensus guidelines. Ophthalmologists and dermatologists from the French reference center for epidermal necrolysis were asked to complete a questionnaire on management practices in the chronic phase of SJS/TEN. The survey focused on the presence of a referent ophthalmologist at the center, the use of local treatments (artificial tears, corticosteroid eye drops, antibiotic-corticosteroids, antiseptics, vitamin A ointment (VA), cyclosporine, tacrolimus), the management of trichiatic eyelashes, meibomian dysfunction, symblepharons, and corneal neovascularization, as well as the contactologic solutions implemented. Eleven ophthalmologists and 9 dermatologists from 9 of the 11 centers responded to the questionnaire. Based on questionnaire results, 10/11 ophthalmologists systematically prescribed preservative-free artificial tears, and 11/11 administered VA. Antiseptic or antibiotic eye drops or antibiotic-corticosteroid eye drops were recommended as needed by 8/11 and 7/11 ophthalmologists, respectively. In case of chronic inflammation, topical cyclosporine was consistently proposed by 11/11 ophthalmologists. The removal of trichiatic eyelashes was mainly performed by 10/11 ophthalmologists. Patients were referred to a reference center for fitting of scleral lenses (10/10,100%). Based on this practice audit and literature review, we propose an evaluation form to facilitate ophthalmic data collection in the chronic phase of EN and we also propose an algorithm for the ophthalmologic management of ocular sequelae.

Abstract Mucopolysaccharidosis (MPS) VI is a rare genetic disease characterized by deficient activity of N‐acetylgalactosamine 4‐sulfatase, leading to the systemic deposition of glycosaminoglycans. Ocular involvement is classically characterized by progressive corneal clouding, ocular hypertension (OHT), and optic neuropathy. Although corneal clouding can be solved with penetrating keratoplasty (PK), visual impairment usually remains, being frequently attributed to glaucoma. The purpose of this study was to retrospectively describe a series of MPS VI patients with optic neuropathy in order to deepen the knowledge regarding the causes of severe visual impairment among these patients. We present five genetically confirmed clinical cases of MPS VI, treated with enzymatic replacement therapy, and with regular systemic and ophthalmologic follow‐up. Corneal clouding was a common early presenting feature, leading to PK in four patients. During their follow‐up, all patients developed very low visual acuities regardless of corneal grafts outcomes and controlled intraocular pressure (IOP). Furthermore, all patients exhibited optic atrophy and imagiological evidence of significant subarachnoid space enlargement and consequent optic nerve thickness reduction, suggesting compression of the optic nerve in a retro‐ocular location as the cause of optic neuropathy. Although optic neuropathy in MPS VI is commonly attributed to glaucoma due to OHT, by describing a series of five MPS VI patients, we provided evidence that, differently from glaucoma, compression of optic nerve in a retro‐ocular location is crucial for the development of optic neuropathy, at least in some cases. We propose the denomination of posterior glaucoma and suggest it as an important cause of optic neuropathy, leading to severe visual impairment and blindness among these patients.

Behcet’s disease (BD) is a chronic multi-systemic disease characterized by relapsing-remitting oral ulcers, genital ulcers, ocular inflammatory involvements, and numerous other systemic features. Ocular involvements are quite common in BD and may cause severe tissue damage and potentially blindness. Even though the pathogenesis of BD remains ambiguous, growing evidences have shown that genetic factors, environmental triggers and immunological abnormalities play significant roles in its development and progression. Novel biotherapies targeting IFN-γ, TNF-α and interleukins have been used in recent years. In this review, we mainly pay attention to the ocular involvement of BD, and discuss the current understanding of mechanisms and advances in therapeutic approaches, especially novel biologics. Finally, we discuss the management in patients with pregnancy.

Objectives: Eye involvement is a main presentation of Behcet's disease. This study was performed to evaluate possible determinants affecting the occurrence of eye involvement, especially the role of early systemic treatment with immunomodulatory drugs on the incidence of ocular involvement. Methods: This is a retrospective cohort study performed on 1166 Behcet's patients in the Behcet's Clinic of Rheumatology Research Center. All patients were followed up for at least 10 years and a maximum of 15 years. Data analysis was performed using survival analysis models including Kaplan-Meier Survival analysis, Logrank test, and Cox's proportional hazards regression. Results: 1166 Behcet's patients were evaluated. 80 patients who had eye involvement as the first manifestation of the disease were excluded and 1086 participants entered the analysis. Among them, 647 patients (59.6%) developed ocular involvement 7.8 ± 6.7 years after the first symptom. Immunomodulatory treatment before ocular involvement reduced the risk by 3 times (P-value

Nasrine Anais El Salloukh,1 Dany G Hage,2 Anna Z Bashshur,1 Wajiha Jurdi Kheir1 1Ophthalmology Department, American University of Beirut Medical Center, Beirut, Lebanon; 2Tulane University School of Medicine, New Orleans, LA, USACorrespondence: Wajiha Jurdi Kheir, Department of Ophthalmology, American University of Beirut Medical Center, Cairo Street, Beirut, Lebanon, Tel +961-1-350000, Fax +961-1-370837, Email wk40@aub.edu.lbAbstract: Acute myeloid leukemia (AML) is a hematological malignancy affecting different organ systems including the eye. The purpose of this review is to present and evaluate the medical literature regarding the early ophthalmological manifestations of acute myeloid leukemia. AML affects the ocular system through direct infiltration of tissues, secondary to hematological abnormalities, or in the form of chloroma or myeloid sarcoma in the brain or orbit consequently leading to a variety of manifestations depending on the ocular tissue involved. It is imperative for ophthalmologists to be aware of the early ophthalmological manifestations of AML which will allow for earlier diagnosis and treatment of this life-threatening disease.Keywords: ocular involvement, myeloblastoma, chloroma, myeloid sarcoma, ocular granulocytic sarcoma, leukemic infiltration

Stevens-Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN) are serious and rare diseases, most often drug-induced, and their incidence has been estimated at 6 cases/million/year in France. SJS and TEN belong to the same spectrum of disease known as epidermal necrolysis (EN). They are characterized by more or less extensive epidermal detachment, associated with mucous membrane involvement, and may be complicated during the acute phase by fatal multiorgan failure. SJS and TEN can lead to severe ophthalmologic sequelae. There are no recommendations for ocular management during the chronic phase. We conducted a national audit of current practice in the 11 sites of the French reference center for toxic bullous dermatoses and a review of the literature to establish therapeutic consensus guidelines. Ophthalmologists and dermatologists from the French reference center for epidermal necrolysis were asked to complete a questionnaire on management practices in the chronic phase of SJS/TEN. The survey focused on the presence of a referent ophthalmologist at the center, the use of local treatments (artificial tears, corticosteroid eye drops, antibiotic-corticosteroids, antiseptics, vitamin A ointment (VA), cyclosporine, tacrolimus), the management of trichiatic eyelashes, meibomian dysfunction, symblepharons, and corneal neovascularization, as well as the contactologic solutions implemented. Eleven ophthalmologists and 9 dermatologists from 9 of the 11 centers responded to the questionnaire. Based on questionnaire results, 10/11 ophthalmologists systematically prescribed preservative-free artificial tears, and 11/11 administered VA. Antiseptic or antibiotic eye drops or antibiotic-corticosteroid eye drops were recommended as needed by 8/11 and 7/11 ophthalmologists, respectively. In case of chronic inflammation, topical cyclosporine was consistently proposed by 11/11 ophthalmologists. The removal of trichiatic eyelashes was mainly performed by 10/11 ophthalmologists. Patients were referred to a reference center for fitting of scleral lenses (10/10,100%). Based on this practice audit and literature review, we propose an evaluation form to facilitate ophthalmic data collection in the chronic phase of EN and we also propose an algorithm for the ophthalmologic management of ocular sequelae. [ABSTRACT FROM AUTHOR]

Inflammatory bowel diseases (IBD), including Crohn's disease (CD) and ulcerative colitis (UC), are chronic immune-mediated conditions caused by various polygenic and environmental factors. Clinical manifestations of IBD primarily occur in the gastrointestinal tract, but many patients are affected by extraintestinal complications, including eye diseases. Ocular disorders are the third most common extraintestinal manifestation (EIM), following musculoskeletal and mucocutaneous involvement. Episcleritis, frequently occurring in IBD patients, may be associated with exacerbation of the intestinal disease. Uveitis does not correlate with IBD activity but may be related to the presence of other EIMs, particularly erythema nodosum and peripheral arthritis. Early detection and specific therapy of ocular manifestations of IBD are fundamental to avoiding sight-threatening complications. Therefore, ophthalmic evaluation should be performed in all IBD patients. Systemic corticosteroids or immunosuppressants may be inevitable in severe cases to control ocular inflammation. Persistent and relapsing conditions usually respond well to TNF-α-inhibitors. Interdisciplinary cooperation between gastroenterologists and ophthalmologists is fundamental in initiating the appropriate treatment for patients. [ABSTRACT FROM AUTHOR]

The rapid and accurate identification of pathogenic agents is the key to guide clinicians on diagnosis and medication, especially for intractable diseases, such as neurosyphilis. It is extremely challenging for clinicians to diagnose neurosyphilis with no highly sensitive and specific test available. It is well known that the early transmission and immune evasion ability of Treponema pallidum have earned it the title of "stealth pathogen." Neurosyphilis has complex clinical manifestations, including ocular involvement, which is infrequent and often overlooked, but its neuroimaging results may be normal. Therefore, it is important to find a new test that can detect the presence or absence of Treponema pallidumimmediately for the diagnosis of neurosyphilis. We reviewed all the patients admitted to the Sichuan Provincial People's Hospital between 2021 and 2022 who had ocular involvement and whose clinical samples were examined via metagenomic next-generation sequencing (mNGS), and we found 10 candidates for further analysis. The results of magnetic resonance imaging (MRI) were normal for four patients, and three of them met the diagnostic criteria for neurosyphilis confirmed by mNGS. In addition, the results of mNGS from the three patients were further validated using polymerase chain reaction (PCR). Five of the 10 patients had diplopia manifestations; two (20%) experienced abducens nerve palsies, two (20%) had eyelid drooping, and one (10%) had decreased vision. One of the 10 patients (10%) who was HIV positive and five patients had abnormal MRI results. To our knowledge, Treponema pallidum was detected by mNGS in patients with ocular involvement and normal MRI results for the first time. Given this situation, we recommend mNGS as a potential and supplementary tool for the diagnosis and differential diagnosis of neurosyphilis. [ABSTRACT FROM AUTHOR]

Background: Hemolytic uremic syndrome (HUS) is a systemic thrombotic microangiopathy characterized by hemolytic anemia, thrombocytopenia, and variable kidney involvement. Extrarenal thrombotic microangiopathy occurs in central nervous system (CNS), colon, and other organ systems, but ocular involvement is rarely recognized. This study aimed to analyze frequency and severity of ocular involvement in STEC-HUS, and the relationship between ocular involvement and disease severity, with emphasis on CNS, kidney, and colonic disease. Methods: Prospective, longitudinal, observational study. Inclusion criteria: STEC-HUS patients September 2014–January 2019. Funduscopic examination (FE) was performed within 48 h of admission. We evaluated severity of CNS disease, kidney involvement, and presence of hemorrhagic colitis (HC). Results: Ninety-nine patients were included (female 52), mean age 39.4 months (DE: 29.8; range 9–132). Thirteen patients (13.1%) had abnormal FE, 10 showing variable degrees of hemorrhagic exudates and 2 with typical Purtscher-like retinopathy. Other findings included tortuous vascularity, cotton wool spots, and transient retinal edema. CNS involvement was present in 16/99 patients, severe in 12 (75%). Abnormal FE occurred in 5/12 (31%) patients with severe CNS involvement vs. 8/87 (9.2%) with mild, moderate, or no CNS disease (p = 0.0191). Abnormal FE was present in 2/33 (6%) patients without dialysis vs. 11/66 (16.6%) requiring dialysis (p = 0.20). Finally, there were FE abnormalities in 6/20 patients with HC vs. 7/79 without HC (p = 0.012). Conclusions: FE abnormalities were present in 13% of HUS patients. Abnormal FE significantly associated with more severe disease, including severe CNS involvement and HC. We suggest FE should be performed in severe HUS, especially in cases with severe CNS disease. A higher resolution version of the Graphical abstract is available as Supplementary information [ABSTRACT FROM AUTHOR]

Introduction: Among 40 million cases worldwide, 60-75% of patients have at least one ocular manifestation in their lifetime. The eye is an organ with wide spectrum of HIV-related manifestations. This study aimed to determine the pattern of ocular manifestations of HIV/AIDS and their correlation with CD4-count in a rural area of India. Materials and Methods: A hospital based observational study was done on 212 HIV-positive patients presenting to ART center with ocular complaints. Data were collected using face-to-face interviews, clinical examination, slit lamp examination, fundus examination, and laboratory investigations. Results: Out of 212 patients, 114 were males, and 98 were females, with mean age of 38.75 ± 13.9 years. HIV retinopathy was the most common HIV associated ophthalmic lesion, while anterior uveitis was the most common anterior segment finding. Posterior segment lesions showed a significant association with the low CD4 count of the patient. CMV retinitis, retinal detachment, tubercular chorioretinitis, and acute retinal necrosis were all seen in patients with CD4 count of less than 100 cells/mm3. Conclusions: HIV retinopathy, CMV retinitis, herpes zoster ophthalmicus, and anterior uveitis are common ocular manifestations associated with HIV infection. Low CD4 count is a risk as well as a predictor for ocular manifestations. There needs to be awareness of ocular involvement among HIV infected individuals and an increased emphasis on regular ophthalmic examination. [ABSTRACT FROM AUTHOR]

Objective:Behçet’s disease (BD) is a multisystemic inflammatory disease that causes significant morbidity worldwide. In this study, we aimed to evaluate the clinical and demographic characteristics of the patients with BD.Materials and Methods:Patients admitted to our physical medicine and rehabilitation clinic between January 2015 and December 2018 were evaluated retrospectively. One hundred sixty patients who met the diagnostic criteria of the International Study Group for BD were included in the study. In addition to the patients’ demographic characteristics, their clinical features, including age at onset, symptoms on initial admission, disease duration, systemic/organ involvement and medical treatments used, were recorded.Results:The mean age of the 160 patients included in the study was 40.48±10.0 [minimum (min): 19, maximum (max): 72]. The mean age at disease onset was 30.54±8.46 (min: 14, max: 62). The most common involvement type in BD was mucocutaneous manifestations, and oral aphthae were the most common mucocutaneous symptom, with an occurrence rate of 100%. Regarding clinical manifestations, 36.3% (n=58) of patients showed ocular involvement, 16.9% (n=27) had vascular involvement and 15% (n=24) had musculoskeletal involvement. The rarest involvement was that of the genitourinary system, with a rate of 0.6% (n=1). Colchicine was the most commonly used therapeutic agent, whereas steroids, azathioprine, cyclosporine and various biologicals could also be used, depending on clinical status.Conclusion:The results of our study suggest that, although the most common manifestation of BD is mucocutaneous involvement, the involvements of various systems, such as the ocular, musculoskeletal and neurological systems, are not rare and are associated with severe morbidity and mortality. Treatment modalities vary according to the systems and organs involved. Therefore, it is very important to systematically evaluate patients with BD and to arrange appropriate and effective treatment.

Idiopathic retinal vasculitis is a chronic disease of unknown aetiology which results in ocular morbidity in patients of productive age group. Homocysteine has been implicated in various ocular conditions like age-related macular degeneration, retinal vein occlusions, diabetic retinopathy, and optic nerve diseases. We conducted a study to investigate the relation between serum homocysteine levels and retinal vasculitis at a tertiary care centre in North India. In this case-control study, 32 cases and 64 controls were included and the duration was from June 2017 to March 2019. Serum homocysteine of cases and controls was detected by reflectance photometry using VITROS Chemistry Products HCY 2 (Homocysteine) and the normal range of serum homocysteine as per this method was 6.60 to 14.80 micro mol per litre. Our study found that of the total 32 retinal vasculitis patients, serum homocysteine was raised in 65.62% (21 cases out of 32) and in 70.31% of control group (45 out of 64). Chi square test results showed that there was no significant association found between S. homocysteine levels and Reticular vasculitis (P: 0.64). The two groups were comparable in terms of the age with mean ± SD in cases being 33.47 ± 8.336 years and controls being 35.16 ± 8.568 years with a P value of 0.37 being statistically insignificant. The data collected was analysed using SSPS-16 (Statistical Package for Social Sciences Version 16) software and test of association was Odd's ratio. Power of study was 80% and P < 0.05 is considered statistically significant. We found that there is no significant association between raised serum homocysteine and retinal vasculitis (with P < 0.64). Odds ratio was 0.80(0.33–1.99) implying that the cases and controls were statistically significantly different with respect to homocysteine levels. [ABSTRACT FROM AUTHOR]

Abstract Background Legionnaire’s disease is one of the major causes of community-acquired pneumonia and is occasionally complicated by neurological symptoms. However, reports of ocular lesions due to Legionnaire’s disease are limited. Case presentation We report the case of a patient with Legionnaire’s disease presenting as bilateral central scotomata due to retinal lesions. The patient consulted due to fever and bilateral central scotomata, as well as other extrapulmonary symptoms. Optical coherence tomography (OCT) showed bilateral accumulations of fluid under the retina, and the patient was diagnosed with bilateral exudative retinal detachment. Later, Legionnaire’s disease was confirmed by pulmonary infiltrates on chest imaging and positive urinary antigen for Legionella pneumophila. After administration of antibiotics, the bilateral central scotomata and bilateral subretinal fluid accumulations completely resolved, as did the other extrapulmonary symptoms and the pulmonary infiltrates. Thus, the bilateral central scotomata due to exudative retinal detachment were thought to be caused by Legionnaire’s disease. Conclusions This case demonstrates that Legionnaire’s disease can present as bilateral central scotomata. We may consider the possibility of extrapulmonary involvement complicating Legionnaire’s disease when we encounter bilateral ocular lesions in patients with fever and pneumonia.

Aim: The aim of the study was to report the etiology, pattern, and spectrum of ocular injuries in patients with maxillofacial injuries seen at a tertiary care hospital in northern Nigeria. Patients and Methods: This is a retrospective evaluation of the etiology, spectrum, and treatment of ocular injures seen in patients with midfacial fractures, who presented at Ahmadu Bello University Teaching Hospital, Shika-Zaria, Nigeria, a tertiary care hospital in northern Nigeria. Cases were seen at the oral and maxillofacial clinic for those presenting with midfacial fractures, whereas those presenting with ocular injuries due to midfacial injuries were referred from the ophthalmology department. Data were collected on their demographics, etiology of injuries, body part(s) involved, and treatment. Results: A total of 256 patients had midfacial injuries during the period, of which 219 patients had 357 associated ocular injuries. The age range was between 3 and 76 years. There were more males (83.8%) than females (16.2%), giving a male-to-female ratio of 5.2:1; the 21–30 years' age bracket was most frequently affected (38.4%). The predominant etiology of injuries was road traffic accidents (RTAs) (90.1%), followed by assault (4.9%). Zygomatic complex fractures (38.6%) and orbital wall fractures (24.7%) were the common midfacial injuries. There were 357 ocular injuries, giving a patient: injury ratio of 1:1.6, with subconjunctival hemorrhage (32.5%) and ruptured globe (20.0%) being common. Treatments performed were reduction and immobilization of midfacial fractures plus evisceration (32.0%), followed by reduction and immobilization of fractures alone (23.9%) and reduction and immobilization plus grafting of soft tissues (21.2%). Conclusion: Ocular injuries are quite common in patients with midfacial injuries, with a ratio of 1.6:1. RTA was the most common etiology, with zygomatic complex fractures as the most common midfacial injury. Subconjunctival hemorrhage was the most common ocular injury manifestation, with young adults (21–30 years of age) being most affected. Treatment often involved reduction and immobilization of midface fractures with evisceration and grafting of ocular tissues.

Background: Psoriasis is primarily a skin disorder with many extracutaneous manifestations. Relationship between eye lesions and psoriasis has been reported in literature. However, much data are not available on ocular manifestations of psoriasis in the Indian population. Objective: The objectives of this study were to assess the frequency of ocular manifestations in psoriasis and to correlate it with factors such as age, gender, duration of disease, type of psoriasis, and severity of psoriasis. Materials and Methods: A total of 100 patients with psoriasis and 100 healthy controls were enrolled in the study. Clinical types of psoriasis, duration of disease, site of involvement, and severity of psoriasis were noted. Slit lamp examination, fluorescein staining of ocular surface, and fundoscopy were done for both groups. Dry eye evaluation was performed by measuring the values of Schirmer 1 and tear film breakup time. Results: Prevalence rate of ocular involvement in psoriasis was found to be 61% as compared to 30% in controls. Most common ocular finding was conjunctival hyperaemia (47%) followed by dry eye (36%) and blepharitis (27%). Scalp psoriasis was found to be significantly associated with blepharitis (P < 0.0001). There was corneal involvement in 9 cases and uveitis in three cases. No correlation was found between the frequency of ocular manifestations and factors such as age, gender, duration, and the severity of psoriasis. Conclusion: Ocular manifestations in psoriasis are common and they affect mostly the anterior segment of the eye. Routine ophthalmological evaluation is important in these patients for early diagnosis, which in turn can prevent sight threatening complications.

This case-control study aimed to evaluate the possible association of MCP-1 − 2518A/G genetic polymorphism with Behcet's disease (BD) in the Iranian patients. This study was performed in 135 Behcet's patients (51 ocular and 84 non-ocular) and 79 healthy individuals. Peripheral blood samples were genotyped for MCP-1 − 2518A/G using the PCR-RFLP technique. The statistical analysis of MCP-1 − 2518A/G showed no significant differences in genotype/allele frequencies between Behcet's patients and controls. There was no significant association in genotype/allele frequencies between either ocular or non-ocular BD patients and controls. Also, different genotype/allele frequencies between ocular and non-ocular BD were not statistically significant. In this study, with a threshold P-value of 0.05 and an estimated power of 0.81 to detect a significant association (odds ratio ≥1.2), we did not observe any association of this variant with Behcet's disease. [ABSTRACT FROM AUTHOR]

Abstract Background A strong correlation was previously found between mean platelet volume (MPV), red blood cell distribution width (RDW), and the severity of signs and symptoms in patients suffering from inflammatory and autoimmune diseases. The current study evaluated these correlations in patients with Behçet’s disease (BD) as well the relationship between MPV and RDW and disease activity score on the Iranian Behçet’s Disease Dynamic Activity Measurement (IBDDAM). Methods This cross-sectional study included 319 patients with BD for whom demographic and epidemiological data, IBDDAM scores, and duration of illness was recorded. Blood samples were then obtained and the relationships between their disease status and manifestations and their laboratory parameters were evaluated with statistical models to find possible correlations. Results Our analysis showed a significantly higher RDW in patients with BD who had ocular manifestations (p

Abstract Stevens-Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN) can lead to severe ophthalmologic sequelae. The main risk factor is the severity of the initial ocular involvement. There are no recommendations for ocular management during acute phase. We conducted a national audit of current practice in the 11 sites of the French reference center for toxic bullous dermatoses and a review of the literature to establish therapeutic consensus guidelines. We sent a questionnaire on ocular management practices in SJS/ TEN during acute phase to ophthalmologists and dermatologists. The survey focused on ophthalmologist opinion, pseudomembrane removal, topical ocular treatment (i.e. corticosteroids, antibiotics, antiseptics, artificial tear eye drops, vitamin A ointment application), amniotic membrane transplantation, symblepharon ring use, and systemic corticosteroid therapy for ophthalmologic indication. Nine of 11 centers responded. All requested prompt ophthalmologist consultation. The majority performed pseudomembrane removal, used artificial tears, and vitamin A ointment (8/9, 90%). Combined antibiotic-corticosteroid or corticosteroid eye drops were used in 6 centers (67%), antibiotics alone and antiseptics in 3 centers (33%). Symblepharon ring was used in 5 centers (55%) if necessary. Amniotic membrane transplantation was never performed systematically and only according to the clinical course. Systemic corticosteroid therapy was occasionally used (3/9, 33%) and discussed on a case-by-case basis. The literature about ocular management practice in SJS/ TEN during acute phase is relatively poor. The role of specific treatments such as local or systemic corticosteroid therapy is not consensual. The use of preservatives, often present in eye drops and deleterious to the ocular surface, is to be restricted. Early amniotic membrane transplantation seems to be promising.

Multiple myeloma is a plasma cell dyscrasia with an age-standardized incidence of 3 - 4 per 100,000 in the Caucasian population. It is the second most common hematological malignancy after non-Hodgkin lymphoma, representing 1% of all cancers. Herein, we present a case report of multiple myeloma with ocular involvement as a sign of recurrence. A 62-year-old woman, with a known history of lambda light chain multiple myeloma, presented with reduced visual acuity in both eyes while on maintenance chemotherapy. The patient also had mild unsteadiness and fatigue. Fundus examination revealed bilateral optic disc swelling and hemorrhages of the posterior pole. Magnetic resonance imaging disclosed no abnormalities. Although no biopsy of the optic nerve was possible, intracranial pressure was elevated and cerebrospinal fluid was riddled with neoplastic cells, affirming the diagnosis. After 2 months of chemotherapy, visual function and the appearance of the posterior pole returned to normal. In cases of multiple myeloma, mechanisms, such as hyperviscosity syndrome, microvascular impairment and optic nerve and meningeal infiltration on a cellular level may have played a pivotal role in the ocular involvement, which can be the first sign of recurrence., Competing Interests: The authors declare that they do not have any conflict of interest., (Copyright 2024, Pantelidou et al.)

Mantle cell lymphoma is a subtype of B cell non-Hodgkin's lymphoma with different clinical and molecular features. Extranodal involvement is common in MCL. Bone marrow, liver, spleen, waldeyer ring and gastrointestinal involvement are most common. Lymphomatosis polyposis can be seen in some patients. Central nervous system involvement is rare. Here, we aimed to present a blastoid variant MCL patient who developed orbital recurrence after four lines of systemic therapy and responded to ibrutinib (560 mg/day) monotherapy. The mass disappeared completely in the bilateral orbital MRI taken after the 5th month of the ibrutinib treatment. [ABSTRACT FROM AUTHOR]

Ocular involvement of lichenoid dermatoses, such as lichen planus (LP), lichen planus pigmentosus (LPP), and lichen planopilaris (LPL), although uncommon, is associated with skin manifestations. Isolated ocular involvement is very rare. When lesions are confined to the skin, the dermatologist inquires and evaluates for oral and genital symptoms and lesions, respectively; hence, eye manifestations are commonly neglected by the non‐ophthalmologist. Ocular involvement in LP, LPP, and LPL may result in significant morbidity. An ophthalmic interrogatory and a gross ophthalmic evaluation performed by the dermatologist may unravel ocular signs and symptoms that require evaluation by an eye specialist. Ocular surface inflammation and scarring, when untreated, results in serious complications such as corneal perforation and permanent vision loss. This review aims to present an up‐to‐date overview for the dermatologist of the ocular involvement and complications of LP, LPP, and LPL, and when to refer to the ophthalmologist to prevent blinding complications. [ABSTRACT FROM AUTHOR]

PURPOSE: The aim of the present study was to assess platelet activation by analyzing three platelet activation parameters in ocular Behçet's disease (BD): mean platelet volume (MPV), platelet distribution width (PDW), and plateletcrit (PCT). METHODS: Twenty-nine patients with active ocular BD (Group 1), 40 patients with inactive ocular BD (Group 2), and 40 healthy adult individuals serving as controls (Group 3) were evaluated. All of the individuals had been performed the complete ophthalmologic evaluation. The levels of MPV, PDW, and PCT were measured in each group. RESULTS: The mean MPV level was 8.40 ± 0.97 in Group 1, 8.32 ± 1.04 in Group 2, and 7.77 ± 0.72 in Group 3. The mean PDW level was 15.12 ± 1.09 in Group 1, 14.97 ± 1.02 in Group 2, and 14.52 ± 0.82 in Group 3. The mean PCT level was 0.23 ± 0.07 in Group 1, 0.21 ± 0.04 in Group 2, and 0.18 ± 0.03 in Group 3. MPV, PDW, and PCT levels were significantly higher in ocular BD patients than controls (P < 0.05). CONCLUSION: Platelet activation may affect vascular occlusion in ocular Behçet's patients with posterior segment involvement. This result may be important in evaluating ocular BD patients. [ABSTRACT FROM AUTHOR]

Congenital muscular dystrophies involving the central nervous system are genetically and clinically heterogeneous group of diseases, with clinical presentation ranging from isolated muscle involvement to severe central nervous system and eye involvement. Congenital muscular dystrophies may be due to defects in the glycosylation of α-dystroglycan because of mutations in genes encoding specific glycosyltransferases: POMT1, POMT2, POMGnT, FCMD, FKRP, LARGE. Mutations in the same gene may cause different variants of CMD. The aim of this report is to present a case of congenital muscular dystrophy - “muscle-eye-brain disease” in a patient with pathological variant in the POMGNT1 gene (protein O-mannose beta 1,2-N-acetylglucosaminyltransferase) with central nervous system and eye involvement. The patient is a 5-year-old girl with hydrocephalus, detected prenatally by ultrasound and confirmed in 8 lunar month by fetal magnetic resonance imaging. The child is unable to walk alone and is severely mentally retarded, with pronounced hypotonia, symptomatic epilepsy, bilateral convergent strabismus, myopia (-8D), astigmatism and dysmorphic facial features. Biochemical studies showed high creatine phosphokinase (6014 U/l), electromyography revealed evidence for myopathy and neuroimaging showed severe involvement of central nervous system - ventriculomegaly and congenital cortical brain malformations. Whole exome sequencing was performed and homozygous pathological variant in the PОMGNT1 gene was detected. [ABSTRACT FROM AUTHOR]

Objective: Behçet's disease (BD) is a multisystemic inflammatory disease that causes significant morbidity worldwide. In this study, we aimed to evaluate the clinical and demographic characteristics of the patients with BD. Materials and Methods: Patients admitted to our physical medicine and rehabilitation clinic between January 2015 and December 2018 were evaluated retrospectively. One hundred sixty patients who met the diagnostic criteria of the International Study Group for BD were included in the study. In addition to the patients' demographic characteristics, their clinical features, including age at onset, symptoms on initial admission, disease duration, systemic/organ involvement and medical treatments used, were recorded. Results: The mean age of the 160 patients included in the study was 40.48±10.0 [minimum (min): 19, maximum (max): 72]. The mean age at disease onset was 30.54±8.46 (min: 14, max: 62). The most common involvement type in BD was mucocutaneous manifestations, and oral aphthae were the most common mucocutaneous symptom, with an occurrence rate of 100%. Regarding clinical manifestations, 36.3% (n=58) of patients showed ocular involvement, 16.9% (n=27) had vascular involvement and 15% (n=24) had musculoskeletal involvement. The rarest involvement was that of the genitourinary system, with a rate of 0.6% (n=1). Colchicine was the most commonly used therapeutic agent, whereas steroids, azathioprine, cyclosporine and various biologicals could also be used, depending on clinical status. Conclusion: The results of our study suggest that, although the most common manifestation of BD is mucocutaneous involvement, the involvements of various systems, such as the ocular, musculoskeletal and neurological systems, are not rare and are associated with severe morbidity and mortality. Treatment modalities vary according to the systems and organs involved. Therefore, it is very important to systematically evaluate patients with BD and to arrange appropriate and effective treatment. [ABSTRACT FROM AUTHOR]

Background: Legionnaire's disease is one of the major causes of community-acquired pneumonia and is occasionally complicated by neurological symptoms. However, reports of ocular lesions due to Legionnaire's disease are limited.Case Presentation: We report the case of a patient with Legionnaire's disease presenting as bilateral central scotomata due to retinal lesions. The patient consulted due to fever and bilateral central scotomata, as well as other extrapulmonary symptoms. Optical coherence tomography (OCT) showed bilateral accumulations of fluid under the retina, and the patient was diagnosed with bilateral exudative retinal detachment. Later, Legionnaire's disease was confirmed by pulmonary infiltrates on chest imaging and positive urinary antigen for Legionella pneumophila. After administration of antibiotics, the bilateral central scotomata and bilateral subretinal fluid accumulations completely resolved, as did the other extrapulmonary symptoms and the pulmonary infiltrates. Thus, the bilateral central scotomata due to exudative retinal detachment were thought to be caused by Legionnaire's disease.Conclusions: This case demonstrates that Legionnaire's disease can present as bilateral central scotomata. We may consider the possibility of extrapulmonary involvement complicating Legionnaire's disease when we encounter bilateral ocular lesions in patients with fever and pneumonia. [ABSTRACT FROM AUTHOR]

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Aim: The aim of the study was to report the etiology, pattern, and spectrum of ocular injuries in patients with maxillofacial injuries seen at a tertiary care hospital in northern Nigeria. Patients and Methods: This is a retrospective evaluation of the etiology, spectrum, and treatment of ocular injures seen in patients with midfacial fractures, who presented at Ahmadu Bello University Teaching Hospital, Shika-Zaria, Nigeria, a tertiary care hospital in northern Nigeria. Cases were seen at the oral and maxillofacial clinic for those presenting with midfacial fractures, whereas those presenting with ocular injuries due to midfacial injuries were referred from the ophthalmology department. Data were collected on their demographics, etiology of injuries, body part(s) involved, and treatment. Results: A total of 256 patients had midfacial injuries during the period, of which 219 patients had 357 associated ocular injuries. The age range was between 3 and 76 years. There were more males (83.8%) than females (16.2%), giving a male-to-female ratio of 5.2:1; the 21–30 years' age bracket was most frequently affected (38.4%). The predominant etiology of injuries was road traffic accidents (RTAs) (90.1%), followed by assault (4.9%). Zygomatic complex fractures (38.6%) and orbital wall fractures (24.7%) were the common midfacial injuries. There were 357 ocular injuries, giving a patient: injury ratio of 1:1.6, with subconjunctival hemorrhage (32.5%) and ruptured globe (20.0%) being common. Treatments performed were reduction and immobilization of midfacial fractures plus evisceration (32.0%), followed by reduction and immobilization of fractures alone (23.9%) and reduction and immobilization plus grafting of soft tissues (21.2%). Conclusion: Ocular injuries are quite common in patients with midfacial injuries, with a ratio of 1.6:1. RTA was the most common etiology, with zygomatic complex fractures as the most common midfacial injury. Subconjunctival hemorrhage was the most common ocular injury manifestation, with young adults (21–30 years of age) being most affected. Treatment often involved reduction and immobilization of midface fractures with evisceration and grafting of ocular tissues. [ABSTRACT FROM AUTHOR]

Introduction: Type 1 cryoglobulinemia is characterized by a large number of clinical signs. The lack of specificity of these signs can make diagnosis difficult. Ocular manifestations are rarely described across medical literature. Only 15 cases of ophthalmological involvement secondary to cryoglobulinaemia have been reported., Comment: We report the case of a 69-year-old patient with cutaneous type 1 cryoglobulinaemia. He presented with bilateral anterior segment ischemia without retinal involvement with unilateral neovascularisation. Treatment of the B lymphocyte clone with rituximab and bendamustine and plasma exchange were initiated with successfully. Two similar cases describing ischaemic damage to the iris during type 1 cryoglobulinemia have been reported in the literature., Conclusion: Irial ischaemia should be considered as a potential in type 1 cryoglobulinaemia., (Copyright © 2024 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.)