Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report

© 2008 Al Kaissi et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution Licens

Distance refractive error among Aboriginal people attending eye clinics in remote South Australia

The definitive version is available at www.blackwell-synergy.comPurpose: To determine the prevalence of distance refractive error among Aboriginal people attending eye clinics in remote South Australia. Methods: A clinic-based cross-sectional study was conducted that involved opportunistic sampling of Aboriginal people attending eye clinics in remote South Australia. There were 189 individuals who were invited to participate in the study all of whom underwent ophthalmic examination. This examination included measurement of pinhole-corrected visual acuity and non-cycloplegic autorefraction. Results: Automated refractive error examinations were performed on 148 people within this sample. The mean age was 44.8 ± 14.5 years and women comprised 57.7% of the sample. The overall mean refractive error was −0.01 ± 1.8 D (SD). The prevalence of myopia (spherical equivalent (SE) < −0.5 D), high myopia (SE less than or equal to −6.0 D), hypermetropia (SE > 0.5 D), astigmatism (cylinder at least −0.5 D) and anisometropia (difference in SE of >0.5 D) was 31.1%, 0.7%, 33.1%, 55.8% and 45.9%, respectively. Further analyses revealed significant age-related trends with both myopia and hypermetropia. There were no gender associations with any form of refractive error. Of those people with clinically significant refractive error, 51/148 (34%), only four people owned distance spectacles. Conclusions: There continues to be a level of uncorrected distance refractive error within these patients. This represents a need to screen for refractive error among Aboriginal people in remote locations and to provide them with appropriate spectacle correction.Shane R Durkin, Edwin WH Tan, Robert J Casson, Dinesh Selva and Henry S Newlan

Marfan syndrome

Marfan syndrome (MFS) is an autosomal dominant, age-related but highly penetrant condition with substantial intrafamilial and interfamilial variability. MFS is caused by pathogenetic variants in FBN1, which encodes fibrillin-1, a major structural component of the extracellular matrix that provides support to connective tissues, particularly in arteries, the pericondrium and structures in the eye. Up to 25% of individuals with MFS have de novo variants. The most prominent manifestations of MFS are asymptomatic aortic root aneurysms, aortic dissections, dislocation of the ocular lens (ectopia lentis) and skeletal abnormalities that are characterized by overgrowth of the long bones. MFS is diagnosed based on the Ghent II nosology; genetic testing confirming the presence of a FBN1 pathogenetic variant is not always required for diagnosis but can help distinguish MFS from other heritable thoracic aortic disease syndromes that can present with skeletal features similar to those in MFS. Untreated aortic root aneurysms can progress to life-threatening acute aortic dissections. Management of MFS requires medical therapy to slow the rate of growth of aneurysms and decrease the risk of dissection. Routine surveillance with imaging techniques such as transthoracic echocardiography, CT or MRI is necessary to monitor aneurysm growth and determine when to perform prophylactic repair surgery to prevent an acute aortic dissection. Marfan syndrome (MFS) is a genetic disorder affecting the connective tissue, caused by mutations in FBN1 (which encodes fibrillin-1, a structural component of the extracellular matrix); individuals with MFS usually present with cardiovascular (aortic aneurysms and dissections), skeletal and ocular manifestations