Ophthalmology (Eye & Ear Hospital) - Research Publications

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Author: Guymer, Robyn × Subject: eye research ×

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    Cholesterol-lowering medications reduce the risk of age-related maculopathy progression
    McCarty, Catherine A. ; Mukesh, Bickol N. ; Guymer, Robyn H. ; Baird, Paul N. ; Taylor, Hugh R. (Australasian Medical Publishing, 2001-09)
    Age-related macular degeneration (AMD) is the leading cause of blindness in elderly Australians. Currently, there are limited treatment options, and current research efforts are focused on determining the risk factors for AMD and developing effective treatment strategies. Some risk factors for cardiovascular disease have been shown to be associated with AMD, and one study has suggested that Alzheimer's disease is associated with age-related maculopathy. It has also been suggested that alleles of the apolipoprotein E (ApoE) gene may be associated with AMD, cardiovascular disease and Alzheimer's disease. Given this, it is interesting that statins - cholesterol-lowering medications - have been shown to decrease the risk of dementia and diabetes mellitus.
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    Analysis of the EFEMP1 gene in individuals and families with early onset drusen
    Narendran, N. ; Guymer, R. H. ; Cain, M. ; Baird, P. N. (Nature Publishing Group, 2005-01)
    Aims Age-related macular degeneration (AMD) is considered a complex genetic disease, although the genetic influences are not yet fully understood. Genetic analysis is hampered by the late onset of disease and the difficulty in obtaining multigenerational families. To investigate this problem further we studied our population of early onset drusen cases. The Arg345Trp mutation on exon 10 of the EGF-containing fibulin-like extracellular matrix protein 1 (EFEMP1) gene causes two clinical phenotypes of early onset drusen (Doyne honeycomb retinal dystrophy and Malattia Leventinese), yet does not appear to be involved in other early onset drusen phenotypes or typical AMD. We wished to ascertain the involvement of the EFEMP1 gene in our population of sporadic and familial subjects presenting with early onset drusen! and t heir affected relatives.Methods Individuals presenting with drusen/end-stage maculopathy at 60 years or under were identified from retinal clinics in Melbourne. All available first- and second-degree relatives were also examined. In all, 116 ethnically matched controls were collected from the same community for comparison.Results Single stranded conformational polymorphism (SSCP) analysis and subsequent sequencing revealed four previously described and three novel sequence variations. Most occurred at similar frequencies in the case and control populations and were not thought to be disease associated.ConclusionThe term early onset drusen encompasses a wide range of phenotypes and our findings indicate that it is likely that more than one gene is involved in its causation. It is essential that these clinical phenotypes are well described and categorised to allow greater possibility! of su ccess in the search for other disease genes.