Psychometric properties of the Greek version of the NEI-VFQ 25

<p>Abstract</p> <p>Background</p> <p>To evaluate the reliability and construct validity of a Greek version of the NEI-VFQ-25 in patients with chronic ophthalmic diseases.</p> <p>Methods</p> <p>We developed the Greek version of the instrument using forward and backward translation. One hundred-eighty-six patients responded to the questionnaire. To examine reliability, Cronbach's alpha for each subscale was used as an index of internal consistency. Test-retest reliability was evaluated with intraclass correlation coefficients. Regarding construct validity, both convergent and discriminant validities were calculated by means of multi-trait analysis. Rasch analysis was used to estimate the visual ability required by each item for a particular response, and each patient's visual ability. Correspondingly, instrument validity was evaluated by estimating the distribution of residuals for item and subject measures.</p> <p>Results</p> <p>Four patient groups were studied, each including participants with a single cause of visual impairment. Group 1 consisted of 84 glaucoma subjects. Group 2 included 30 subjects with age-related macular degeneration (ARMD); group 3 included 25 subjects with dry-eye syndrome, whereas group 4 included 18 cataract patients. Twenty-nine healthy individuals comprised the control group. NEI-VFQ scores (mean ± SD) for the glaucoma, ARMD, dry-eye, cataract and control groups were: 76.9 ± 20.2, 70.9 ± 20.2, 81.6 ± 16.5, 73.5 ± 24.0 and 93.7 ± 8.9 respectively. Item analysis revealed no significant data skewing. Cronbach's alpha ranged from 0.678 to 0.926, with most subscales having high internal consistency. Intraclass correlation coefficient ranged from 0.717 to 0.910 for all subscales. All items passed the convergent and discriminant validity tests. Strong correlations were detected between visual acuity and "general vision", "distant activities" and "near activities" subscales. Significant correlations were also detected between visual field deficits and the "peripheral vision" and "general vision" subscales. Rasch analysis revealed potential weaknesses of the instrument that are associated with the assumptions of the model itself. Specifically, low precision of the "agreement" items was detected in the estimation of visual ability. Twenty-three percent of the subjects had fit statistics that fell outside the tolerance box.</p> <p>Conclusion</p> <p>Although traditional validation methods indicated that the Greek version of the NEI-VFQ-25 is a valid and reliable instrument for VS-QoL assessment, Rasch analysis detected significant misfits to the model, especially of the "agreement" items. This means that results of the corresponding subscales should be interpreted with extreme caution.</p

Ocular disorders as the prevailing manifestations of antiphospholipid syndrome: a case series

Introduction: Antiphospholipid syndrome is an autoimmune disorder characterized by either a history of vascular thrombosis (one or more clinical episodes of arterial, venous, or small vessel thrombosis in any tissue or organ) or pregnancy morbidity in association with the presence of antiphospholipid antibodies. The systemic features of the syndrome are characterized by large variability depending on the affected organ(s). Among them, neurological and behavioural disturbances, dermatological features as livedo reticularis and renal, ocular, liver or valvular heart manifestations have been reported in antiphospholipid syndrome patients. However, studies on the frequency and clinical presentation of the ocular manifestations as the prevailing (first) sign of antiphospholipid syndrome in patients suffering from "unexplained" ocular disease are missing. Herein, we present three cases suffering from unexplained ocular disease as first manifestation of antiphospholipid syndrome. Case presentation: All the three patients were referred to our department because of unexplained ocular features from the anterior or posterior segment and unexplained neuroophthalmologic symptoms. The first patient had bilateral retinal occlusive disease, the second and the third patient had unilateral nonarteritic anterior ischemic optic neuropathy with macular oedema. Moderate to high levels of antiphospholipid antibodies were detected in all of them at baseline as well as 6 to 12 weeks after initial testing confirming the presence of antiphospholipid antibodies. Anticoagulant treatment with acenocoumarol was instituted resulting in stabilization and/or improvement of ocular signs in all of them. Conclusion: Due to the important diagnostic and therapeutic implications of antiphospholipid syndrome, the possibility of ocular features as the first clinical manifestation of antiphospholipid syndrome should be kept in mind of the physicians particularly in patients with no evident risk factors for ocular disease. In this case, prompt anticoagulant treatment and close follow-up seem to be essential for vision salvation and stabilization. © 2009 Tsironi et al; licensee BioMed Central Ltd

Evaluation of MMP1 and MMP3 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma

Purpose: To investigate possible genetic associations of matrix metalloproteinase-1 (MMP1) and MMP3 gene polymorphisms with exfoliation syndrome (XFS) with (XFS/+G) and without (XFS/-G) glaucoma in a cohort of Greek patients. Methods: A total of 182 unrelated Greek patients with XFS, including 92 patients with XFS/+G, and 214 unrelated age- and gender-matched controls were enrolled in the study. MMP1-1607 1G/2G (rs1799750) and MMP3-1171 5A/6A (rs3025058) polymorphisms were determined using standard PCR/restriction fragment length polymorphism methods. Differences in allele and genotype distributions were analyzed using logistic regression. Results: The distribution of genotypes and alleles in MMP1 and MMP3 polymorphisms was not significantly different between cases with exfoliation syndrome, with or without glaucoma, and controls. However, the allele contrast for the MMP1 variant showed a trend for a significant association with XFS/-G (Odds Ratio=1.47 [1.03-2.10]), since after correction for multiple comparisons, this association was no longer statistically significant. Conclusions: Our study provided some evidence of a possible role of the MMP1 variant in the development of exfoliation syndrome in Greek patients

Association between isotretinoin use and central retinal vein occlusion in an adolescent with minor predisposition for thrombotic incidents: a case report

<p>Abstract</p> <p>Introduction</p> <p>We report an adolescent boy with minimal pre-existing risk for thromboses who suffered central retinal vein occlusion associated with isotretinoin use for acne. To the best of our knowledge, this is the first well documented case of this association.</p> <p>Case presentation</p> <p>An otherwise healthy 17-year-old white man who was treated with systemic isotretinoin for recalcitrant acne was referred with central retinal vein occlusion in one eye. Although a detailed investigation was negative, DNA testing revealed that the patient was a heterozygous carrier of the G20210A mutation of the prothrombin gene. Despite the fact that this particular mutation is thought to represent only a minor risk factor for thromboses, it is probable that isotretinoin treatment greatly increased the risk of a vaso-occlusive incident in this patient.</p> <p>Conclusion</p> <p>Isotretinoin use may be associated with sight- and life-threatening thrombotic adverse effects even in young patients with otherwise minimal thrombophilic risk. Physicians should be aware of such potential dangers.</p

Giant nonfunctioning adrenal tumors: two case reports and review of the literature

Abstract Background There are an estimated 1–2 cases per million per year of adrenocortical carcinoma in the USA. It represents a rare and aggressive malignancy; it is the second most aggressive endocrine malignant disease after anaplastic thyroid carcinoma. Non-secretory adrenal masses are diagnosed late due to a mass effect or metastatic disease or found incidentally (adrenal incidentalomas). Case presentation The first case report describes a 39-year-old Greek woman who presented to our department with complaints of repeated symptoms of flatulence and epigastric discomfort over a few months. The second case report is about a 67-year-old Greek woman who presented to our department after being evaluated for fatigue, mass effect, and epigastric discomfort. Both of them were diagnosed as having a nonfunctioning adrenocortical carcinoma and underwent open adrenalectomy. Conclusions Approximately 60% of patients with adrenocortical carcinoma present with symptoms and signs of hormonal secretion. Our cases’ adrenocortical carcinomas were not functional. Hormone secretion is not a discriminating feature between benign and malignant adrenocortical masses. The silent clinical nature of nonfunctioning adrenocortical carcinoma results in late diagnosis, while the majority of patients present with locally advanced and/or metastatic disease. Adrenocortical carcinoma is a rare endocrine tumor with a poor prognosis that can be diagnostically challenging and demands high clinical suspicion. The work-up for adrenal masses must include determination of whether the mass is functioning or nonfunctioning and whether it is benign or malignant

Correction to: Giant nonfunctioning adrenal tumors: two case reports and review of the literature

In the publication of this article [1], there is an error in the Family Name and Given Name of the authors since these were interchanged