Ocular morbidity in Marfan syndrome: a nationwide epidemiological study.

BACKGROUND: Ophthalmic complications are profound in Marfan syndrome (MFS). However, the overall burden is not well described. Our purpose was to evaluate the ocular morbidity in a nationwide perspective. METHODS: We identified the ocular morbidity in patients with MFS (n=407) by use of Danish national healthcare registers, using number and timing of hospital contacts related to ophthalmic diagnoses, to ophthalmic surgery and to prescriptions for ophthalmic medication. An age-matched and gender-matched background population (n=40 700) was used as comparator. RESULTS: Among MFS, 56% (226/407) of the patients had at least one registration of an ophthalmic diagnosis as inpatient or outpatient during the study period (HR of 8.0 (95% CI 7.0 to 9.2)). Seven out of 11 main groups of diagnoses were affected, including 'Lens', 'Choroid and retina', 'Ocular muscles, binocular movement, accommodation and refraction', 'Glaucoma', Visual disturbances and blindness', 'Vitreous body and globe', and 'Sclera, cornea, iris and ciliary body'. The number of surgical procedures as well as the use of ophthalmic medication in patients with MFS was significantly increased. CONCLUSION: This nationwide epidemiological study of ocular morbidity in MFS demonstrates a profound burden and emphasises the need for thorough and experienced ophthalmological surveillance.

Optic pathway glioma and the sex association in neurofibromatosis type 1: a single-center study.

BACKGROUND: Low-grade optic pathway glioma (OPG) develops in 15-20% of children with neurofibromatosis type 1 (NF1). OPGs are symptomatic in 30-50% and one-third of these require treatment. A few studies have suggested female sex as a risk factor for visual impairment associated with NF1-OPG. This descriptive study investigated the correlation between NF1-OPG growth, sex and visual impairment. METHOD: We based our cross-sectional study on a systematic, retrospective data collection in a NF1 cohort of children and adolescents below 21 years of age followed at Center for Rare Diseases, Aarhus University Hospital, Denmark. For each patient with OPG a medical chart review was performed including demographics, ophthalmological examinations and magnetic resonance imaging (MRI) of OPG. RESULTS: Of 176 patients with NF1 (85 females, 91 males), we identified 21 patients with OPG (11.9%) with a preponderance of females, p = 0.184. Eight females (62%) and one male (13%) had visual impairment at the last ophthalmological evaluation. Five out of 21 children with OPG (24%) underwent diagnostic MRI because of clinical findings at the ophthalmological screening. Nine children (43%) had symptoms suggestive of OPG and seven (33%) experienced no OPG-related symptoms before the diagnostic MRI. Of eight children diagnosed with OPG ≤ two years of age, one had visual impairment. Of 13 children diagnosed > two years of age, eight had visual impairment; in each group, four of the children were treated with chemotherapy. The study suggested no correlation between NF1-OPG growth and sex. CONCLUSION: Our data suggest sex as a risk factor for visual impairment, while an OPG diagnose ≤ two years of age was a protective factor for visual impairment. Females with NF1-OPG had a higher prevalence of visual impairment outcome compared to males. Interestingly, our data also suggest a better response to treatment in children with OPG diagnosed ≤ two years of age compared to older children. The findings in our study suggest sex as a potential prognostic factor for visual impairment.

Impact of diabetes and poor glycaemic control on risk of bacteraemia with haemolytic streptococci groups A, B, and G.

BACKGROUND: Diabetes has been associated with bacteraemia due to haemolytic streptococci but epidemiological evidence is limited. METHODS: We conducted a 15-year population-based case-control study of all adults with first-time bacteraemia with groups A, B, and G haemolytic streptococci and matched population controls. The study setting was Northern Denmark between 1992 and 2006. We computed odds ratios (ORs) for streptococcal bacteraemia according to diabetes and glycaemic control, using regression analysis for confounder adjustment. RESULTS: We identified 397 adult patients with bacteraemia due to haemolytic streptococci (median age 67 years, 51% women), of which 63 (17%) had diabetes. Persons with diabetes had a 2.1-fold increased risk of streptococcal bacteraemia compared with population controls (adjusted odds ratio (OR) 2.1; 95% confidence interval (CI), 1.5-2.9). For persons with type 1 diabetes, the adjusted OR was 14.8 (2.4-91.2). Longer diabetes duration and poor glycaemic control conferred higher risk estimates: adjusted OR 1.5 (0.8-3.0) for HbA(1c) level <7%, and OR 3.6 (1.6-8.1) for HbA(1c) level ≥9%. The association between diabetes and HS bacteraemia was independent of the underlying foci of infection and was strongest for group B streptococcal bacteraemia (OR 3.5; 1.8-7.0) and for group G streptococcal bacteraemia (OR 2.6; 1.6-4.4). There was no clear increase in risk for group A streptococcal bacteraemia (OR 1.2; 0.7-2.2). CONCLUSIONS: Diabetes is a strong risk factor for group B and group G, but not group A, haemolytic streptococcal bacteraemia. The risk increase is particularly high for type 1 diabetes, long diabetes duration, and poor long-term glycaemic control.