M arfan syndrome (MFS) is an autosomal dominant connective tissue disorder, with variable pathologic features and symptoms from different organ systems. MFS is diagnosed on the basis of the Ghent criteria, 1 defining "involved organ systems" and "major criteria fulfilled." To be given the diagnosis, a person has to fulfill a major criterion in two different organ systems and have a third organ system involved. Approximately 30% of the cases are the first in their family to have MFS, interpreted as caused by new mutations.The impact of MFS on the individual patient may vary considerably both between families and within a family. As aortic disease may result in early death, some patients will have to cope with an impending life-threatening condition. Lens dislocation can give reduced visual acuity, and lens dislocation increases the risk for retinal detachment that can result in blindness. The consequences of dural ectasia are still unclear 2 ; orthostatic headache due to cerebrospinal hypotension has been found 3,4 ; problems with spinal and epidural anesthesia have been reported. 5 Skeletal abnormalities may include a long, slender body shape, chest deformities, scoliosis, and joint hypermobility and may result in a peculiar appearance that invites unwanted attention. Children with MFS often look older than their chronological age and are often treated in accordance with their appearance, rather than their actual age. Individuals with MFS have been bullied and stigmatized at school, in the local environment, and in their occupational life. 6 Moreover, persons with MFS often report musculoskeletal pain, fatigue, and reduced physical endurance. 7,8 In the clinic, persons with MFS usually report few, if any, physical limitations deriving from their cardiovascular system. On the other hand, physicians often advise abstinence from strenuous exercise and prescribe beta-blockers to reduce the aortic dP/dt, heart rate, blood pressure, and left ventricular afterload, with the intention to delay aortic dilatation and lower the risk of aortic dissection. Some patients undergo prophylactic elective graft operations for enlarged aortas. Through such measures, the median life expectancy of persons with MFS has been prolonged considerably. 9 To reduce the risk of aortic dissection, lens dislocation, and retinal detachment, the patients are advised not to participate in contact sports and to wear glasses during sports with small balls. It is our clinical experience that the advised restrictions have often resulted in passivity; a sedentary life with an increasing body size.Given the broad range of symptoms and characteristics among individuals with MFS, as mentioned earlier, one would expect a reduced health-related quality of life (HRQOL). Judging from the MFS literature, where the main focus is on aortic pathology, the severity of aortic disease could potentially be the most important predictor for the degree of reduction. There are, however, few studies of HRQOL in the literature on MFS. In a study of 174 adults with MFS, Pe...

ABSTRACT.Purpose: To study ocular characteristics in 87 patients with verified Marfan syndrome (MFS) based on the Ghent criteria from 1996 (Ghent-1). Methods: The position of the lens was noted by observing the eye in different gaze directions in maximal mydriasis during slit lamp examination. Ectopia lentis (EL) was classified as subluxated (dislocation slightly backwards) or luxated (vertical or horizontal displacement). Corneal curvature, axial length (AL), corneal diameter, central corneal thickness, anterior chamber depth, lens thickness, condition of the iris, intraocular pressure, spherical equivalent and visual acuity were also investigated. Results: EL was found in 108 eyes (62.1%). Of the 68 phakic eyes with EL, 43 (63.2%) had subluxation. Mean AL was 24.80 AE 2.57 mm, and the AL was above 23.5 mm in 65.3%. Mean keratometry (K) in phakic eyes was 41.79 AE 1.70 diopters (D), and the K value was <41.5D in 46.8%. Iris hypoplasia was found in 3.4%. Myopia above 3D occurred in 38.4% of the phakic eyes. Mean binocular logMAR was 0.10 AE 0.32. Only five patients (5.7%) had a logMAR more than 0.5. These 5 patients had EL, and 4 of them were amblyopic. Conclusion: In this strictly defined MFS group fulfilling the Ghent-1 criteria, the prevalence of EL was 62.1%. In many cases, the dislocation of the lens was subtle. On average, the corneas were flattened and the globe length was increased. Only a few patients were visually impaired. Children with MFS should have a thorough follow up to avoid amblyopia.

ABSTRACT.Purpose: To investigate whether type of glaucoma or use of acetazolamide are associated with main cause of death and comorbidity. Material and Methods: The survival data, including date and cause of death, for 1147 patients with capsular or simple glaucoma who were ultimately hospitalized at the Eye Department, National Hospital, Oslo, between 1961 and 1970, were analysed. Binary logistic regression was carried out to investigate the patterns of death causes and comorbidity in subgroup analyses. Results: Patients with exfoliative glaucoma (XFG) and those with primary openangle glaucoma (POAG) showed no significant differences in rates of death caused by acute cerebrovascular diseases, cardiac diseases and cancer. Interestingly, we found that chronic cerebral diseases such as senile dementia, cerebral atrophy and chronic cerebral ischaemia (n ¼ 81) were more common in patients with XFG than in those with POAG (p ¼ 0.01) and in the group of acetazolamide users (p ¼ 0.03). Patients with XFG had a higher probability of developing an acute cerebrovascular disease than patients with POAG (n ¼ 228, p ¼ 0.03). Conclusion: In this retrospective study, we found that comorbidity with acute cerebrovascular disease and chronic cerebral diseases (senile dementia, cerebral atrophy and chronic cerebral ischaemia) were more common in patients with XFG than in patients with POAG. Prospective data are needed in order to conclude upon the associations found in this study.