Ocular Involvement (ocular + involvement)

Distribution by Scientific Domains
Distribution within Medical Sciences

Selected Abstracts

Juvenile Xanthogranuloma with Ocular Involvement

Approximately 0.4% of cases exhibit ocular manifestations, which can result in glaucoma and blindness. We present a case of a 7-month-old male with unilateral glaucoma associated with Juvenile xanthogranuloma, and emphasize the importance of an ocular screening in patients with Juvenile xanthogranuloma, especially those with periocular lesions. [source]

Association of Sjögren's syndrome and rosacea: a diagnostic challenge

Leopoldo Luiz Dos SANTOS-NETO
Abstract Both Sjögren's syndrome and rosacea present clinical manifestations that include ocular involvement. We report a case of a 45-year-old woman with a history of persistent erythematous malar rash, associated with conjunctival hyperemia, xerophthalmia and blefaritis. The patient filled the current classification criteria proposed for Sjögren's syndrome and those for rosacea. The coexistence of these diseases has not been previously described in the literature. Both diseases have similar symptoms and different treatment approaches. We believe that it is important for clinicians to identify this association in order to provide better care for the patient. [source]

Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin

S Khandpur
ABSTRACT We describe a 3-year-old male patient with the ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome, who developed cutaneous and ocular involvement in infancy. In addition, he had growth retardation and borderline intelligence; no other systemic involvement was found on detailed investigation. A moderate response to acitretin therapy (1 mg/kg) administered for 6 months was observed, with improvement in cutaneous features and corneal erosions and no change in alopecia or photophobia. [source]

Rosacea and its management: an overview

AK Gupta
ABSTRACT Background, Rosacea is a chronic inflammatory disorder that affects 10% of the population. The prevalence of rosacea is highest among fair-skinned individuals, particularly those of Celtic and northern European descent. Since a cure for rosacea does not yet exist, management and treatment regimens are designed to suppress the inflammatory lesions, erythema, and to a lesser extent, the telangiectasia involved with rosacea. Objectives, This review outlines the treatment options that are available to patients with rosacea. Methods, Published literature involving the treatment or management of rosacea was examined and summarized. Results, Patients who find that they blush and flush frequently, or have a family history of rosacea are advised to avoid the physiological and environmental stimuli that can cause increased facial redness. Topical agents such as metronidazole, azelaic acid cream or sulfur preparations are effective in managing rosacea. Patients who have progressed to erythematotelangiectatic and papulopustular rosacea may benefit from the use of an oral antibiotic, such as tetracycline, and in severe or recalcitrant cases, isotretinoin to bring the rosacea flare-up under control. Treatment with a topical agent, such as metronidazole, may help maintain remission. Patients with ocular involvement may benefit from a long-term course of an antibiotic and the use of metronidazole gel. A surgical alternative, laser therapy, is recommended for the treatment of telangiectasias and rhinophyma. Patients with distraught feelings due to their rosacea may consider cosmetic camouflage to cover the signs of rosacea. Conclusions, With the wide variety of oral and topical agents available for the effective management of rosacea, patients no longer need to feel self-conscious because of their disorder. [source]

Familial dysautonomia: A diagnostic dilemma.

Chronic lung disease with signs of an autoimmune disease
Abstract We present an 11-year-old girl with sensory and autonomic neurological dysfunction, and respiratory insufficiency caused by recurrent aspiration. The diagnosis of familial dysautonomia (FD) was confirmed by a missing axonal flare to histamine, miosis in response to conjunctival methacholine and homozygous polymorphic linked markers DS58(18) and DS159(7) on chromosome 9. Ashkenazi Jewish descent could not be ascertained by history. A variety of positive tests for autoantibodies were initially interpreted as evidence for systemic lupus erythematosus vs. overlap syndrome with pulmonary, cerebral, skin, and ocular involvement. The diagnosis of FD was delayed because of the rarity of this disorder in Germany (second case reported). We discuss possible explanations for the misleading immunological findings, including interference by antibodies binding to milk proteins used as blocking reagents in enzyme-linked immunoassays and circulating immune-complexes due to chronic aspiration pneumonitis. Pediatr Pulmonol. 2001; 31:478,481. © 2001 Wiley-Liss, Inc. [source]

Thalidomide dramatically improves the symptoms of early-onset Sarcoidosis/Blau syndrome: Its possible action and mechanism

Kozo Yasui
Objective Early-onset sarcoidosis (EOS), which occurs in children younger than 5 years of age, is associated with granulomatous lesions and a sporadic genetic mutation of the nucleotide-binding oligomerization domain 2 that causes constitutive NF-,B activation. The symptoms of EOS can be uncontrollable, progressive, and associated with profound complications. However, appropriate therapy is still under investigation. The aim of this study was to assess the efficacy of thalidomide in patients with severe EOS, based on etiology supporting an initial role of NF-,B in activation of this disease. Methods Thalidomide was given to 2 patients with EOS (a 16-year-old girl and an 8-year-old boy) at an initial dosage of 2 mg/kg/day, and the dosage was increased if necessary. To elucidate the mechanism of the drug, peripheral blood monocytes were isolated from the patients and stimulated with cytokines (macrophage colony-stimulating factor, tumor necrosis factor ,, and interleukin-4), and their ability to form multinucleated giant cells (MGCs) and osteoclasts was measured. Results Both patients showed dramatic improvement of their clinical symptoms (alleviation of fever and optic nerve papillitis, achievement of a response according to the American College of Rheumatology Pediatric 50 and Pediatric 70 criteria) and laboratory findings. Monocytes from patients with EOS had a greater ability to survive and induce MGCs and osteoclasts than those from healthy control subjects. The formation of MGCs and osteoclasts was inhibited by the presence of thalidomide. Conclusion The ability of thalidomide to improve clinical symptoms and laboratory findings in patients with EOS indicates a central role for NF-,B activity in this disorder. Inhibition of IKK might be a pharmacologic action by which thalidomide down-regulates NF-,B signaling. Thalidomide may be an effective medication in patients with severe complications of EOS, including ocular involvement. [source]

Bullous pemphigoid antigen II (BP180) and its soluble extracellular domains are major autoantigens in mucous membrane pemphigoid: the pathogenic relevance to HLA class II alleles and disease severity

N. Oyama
Summary Background, Mucous membrane pemphigoid (MMP), a chronic autoimmune subepithelial blistering disease, is associated with circulating IgG and/or IgA autoantibodies against several basement membrane zone antigens. The heterogeneity of clinical presentation and diversity of target autoantigens have contributed to difficulties in characterizing this condition immunologically. Objectives, To analyse serum autoantibody profile and HLA class II alleles in MMP patients and to correlate this with the clinical presentation of disease. Methods, Well-defined subgroups consisting of 124 patients with MMP were examined for IgG and IgA reactivity with immunoblotting using human epidermal, dermal and placental amnion proteins. The results were further analysed on the basis of detailed clinical (sites of involvement and disease severity) and immunopathological criteria (immunofluorescence study and HLA class II alleles). Results, Immunoblot assay revealed that the majority of MMP patients had IgG (93 of 124, 75%) and/or IgA autoantibodies (63 of 124, 51%) to BP180 (including its soluble ectodomains, 120-kDa LAD-1 and 97-kDa LABD97 antigens). Other antigens targeted predominantly by IgG autoantibodies included: BP230 in 34 (27%), ,4 integrin in 26 (21%), and laminin 5 in three (2%). All the BP230+ sera and 23 (88%) ,4 integrin+ sera also reacted with at least one of the BP180 antigens. Over 85% of patients with reactivity to ,4 integrin had ocular involvement. In most cases of MMP, more severe clinical features were associated with antibody reactivity to multiple basement membrane zone antigens, as well as reactivity to multiple BP180 component antigens. Dual BP180/LAD-1 reactivity with IgG and IgA was associated with a more severe phenotype. In addition, the subset-dependent autoantibody reactivity correlated well with specific HLA class II alleles, DQB1*0301, DRB1*04 and DRB1*11. Conclusions, Our results confirmed that BP180 is a major autoantigen targeted by the sera of patients with MMP. The disease-prevalent HLA class II alleles and humoral autoimmune response against the particular subsets of antigenic epitope(s) within BP180 ectodomain may contribute to the clinicopathological significance and disease severity of MMP. [source]

Involvement of intraocular structures in disseminated histoplasmosis

Marianne Ala-Kauhaluoma
Abstract. Purpose:, To describe ocular involvement and response to treatment in a patient with human immunodeficiency virus (HIV) infection with severe progressive disseminated histoplasmosis (PDH). Methods:, We report a 35-year-old HIV-infected patient seen in our clinics over a period of 4 years. During antiretroviral treatment (ART), the HIV load became undetectable at 3 months; however, CD4 T-cell count increased slowly and rose to 100 cells/,l. Histoplasma capsulatum was cultured from skin pustules, cerebrospinal fluid (CF) and aqueous humour. Results:, The patient developed central nervous system (CNS) involvement 2 months and panuveitis in both eyes 4 months after the initiation of ART. With intravenous liposomal amphotericin B followed by oral voricanozole, the chorioretinal lesions of the right eye (RE) became inactivated and magnetic resonance imaging (MRI) lesions of CNS disappeared. Relapse of the inflammation in the anterior segment of the left eye (LE) resulted in a total closure of the chamber angle and severe glaucoma. Despite medical therapy, two cyclophotocoagulations, total vitrectomy and repeated intravitreal amphotericin B injections, LE became blind. Histoplasma capsulatum was cultured from the aqueous humour after antifungal therapy of 16 months' duration. Conclusion:, PDH with intraocular and CNS manifestations was probably manifested by an enhanced immune response against a previous subclinical disseminated infection. It seems difficult to eradicate H. capsulatum from the anterior segment of the eye in an immunocompromised patient. [source]

Functional and morphological changes in the eyes of Behçet's patients with uveitis

Masaru Takeuchi
Abstract. Purpose:, Behçet's disease (BD) is a chronic, recurrent, multisystem disorder, and serious ocular involvement may lead to blindness. In some BD patients, latent tissue damage caused by recurrent ocular inflammation is not reflected by visual acuity or ophthalmoscopic findings. In this study, we evaluated the morphological and functional changes of ocular features related to duration of uveitis from onset in BD patients, and analysed their association with visual acuity. Methods:, Thirty-eight eyes of 20 patients with ocular BD were enrolled. Eyes with marked complications such as cataract, glaucoma, cystoid macular oedema, macular degeneration and optic atrophy were excluded from the study. During clinical remission of ocular inflammation, perimetric sensitivity and retinal thickness were measured by Micro Perimeter 1 (MP-1) and optical coherence tomography (OCT), respectively. The relationship between MP-1 and OCT findings, best-corrected visual acuity (BCVA) converted to logarithm of the minimum angle of resolution (logMAR) and duration from initial onset of uveitis were analysed statistically. Results:, logMAR correlated with perimetric sensitivity measured with MP-1 at the fovea, inner macula and outer macula, but not with retinal thickness based on OCT. The duration of uveitis correlated significantly with logMAR and with OCT-based retinal thickness at the fovea, inner macular and outer macula, but not with MP-1-derived retinal perimetric sensitivity. No correlation was found between OCT-based retinal thickness and the corresponding MP-1-derived retinal sensitivity at the fovea, inner macula or outer macula. Conclusion:, These results demonstrate that visual acuity, retinal perimetric sensitivity and retinal thickness decrease with an increase in the duration of uveitis in BD patients, but that retinal perimetric sensitivity is relatively preserved among these factors. [source]

Ocular manifestations in liver transplant recipients with familial amyloid polyneuropathy

Ola Sandgren
Abstract. Purpose:, To evaluate postoperative ocular involvement in Swedish liver transplant (LT) recipients with familial amyloid polyneuropathy (FAP). Methods:, Routine ophthalmological examinations were performed in 48 LT recipients, with particular attention given to amyloid deposition in the anterior segment and the vitreous body. Medical records were scrutinized for information regarding neurological impairment at the time of the LT. The diagnosis was secured in all cases by examining for amyloid deposits in biopsy specimens and positive genetic testing for amyloidogenic transthyretin (ATTR) Val30Met mutation. Results:, Six patients (12.5%) developed vitreous opacities within the post-LT observation period. The first opacities were seen 40 months after transplantation, 8 years after the onset of systemic disease. Four patients (8%) developed secondary glaucoma, the first of which was observed 18 months after the procedure and 6.5 years after the onset of disease. Sixteen patients (33%) developed deposits on the anterior surface of the lens. Scalloped pupillary margins were noted in 10 patients (21%). Conclusion:, The prevalence of eye complications increases with time after LT and regular follow-up is necessary, especially to disclose the development of glaucoma , a complication with insidious symptoms of which patients are normally unaware. [source]

Ophthalmic artery blood flow velocity changes in diabetic patients as a manifestation of macroangiopathy

Masanori Ino-ue
ABSTRACT. Purpose: The hemodynamic characteristics of ophthalmic artery (OA) blood flow velocity in diabetic patients with ocular involvement were evaluated. Methods: Changes in OA blood flow of eyes with background diabetic retinopathy (BDR), proliferative retinopathy (PDR) and ocular ischemic syndrome (OIS) were ananalyzed by Color Doppler imaging. Results: Patients with BDR and PDR had significantly lower diastolic and mean blood flow velocities and higher pulsatility indices compared to controls. Diabetic patients with OIS had significantly lower systolic, diastolic and mean anterograde OA blood flow velocities than the controls. Pulsatility indices were higher in anterograde OA blood flow measurements compared to controls. Systolic blood flow velocities in rubeotic eyes with OIS were significantly lower than in rubeotic eyes with PDR. Conclusion: OA blood flow measurements by color doppler imaging may detect macroangiopathies in diabetic patients as manifested by carotid atheromas and arterio- and arterosclerosis of the OA and its branches. [source]

The functional role of nuclear factor kappa-,B1 ,94 ins/del ATTG promotor gene polymorphism in Behçet's disease: an exploratory study

B. Yalcin
Summary Behçet's Disease (BD) is a systemic immunoinflammatory disease. The pathogenesis of BD is unknown, although raised levels of several pro-inflammatory cytokines have been reported. Nuclear factor kappa B (NF-,B) is a family of critical transcriptional factors involved in the regulation of a large variety of inflammatory responses and apoptosis. In this study we investigated the ,94 insertion/deletion ATTG promoter polymorphism of the NF-,B1 gene (NFKB1) in 86 patients with BD and 100 healthy controls. The frequency of the ,94ins ATTG (I) allele was 61.6% in patients with BD and 59% in controls and the frequency of the ,94 del ATTG (D) allele was 38.4% in patients with BD and 41% in controls. The frequency of the ,94ins ATTG (I) allele was significantly higher in patients with ocular involvement (P = 0.03). In the genotype study, the overall frequencies of II, ID and DD were 40.7%, 41.9%, and 17.4% in the patient group and 30%, 58% and 12% in the control group (P: 0.08). The II genotype was significantly higher in patients with ocular involvement, genital ulcers or papulopustular lesions. The frequency of the II, ID and DD genotypes showed no marked difference in patients with erythema nodosum, pathergy positivity, arthritis or vascular involvement. No difference was found for gender, positive family history or age at disease onset. This study provides evidence that the ,94ins/del ATTG promoter polymorphism of NFKB1 may have functional consequences in BD, especially in patients with ocular involvement. [source]