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J. M. Jones, C. J. Flaxel, M. L. Klein, P. J. Francis; Extramacular Neovascular Lesions in Age-Related Macular Degeneration: A Genetically Disctinct Disease Subgroup?. Invest. Ophthalmol. Vis. Sci. 2009;50(13):3455.
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To describe the clinical presentation and genetic profile of a group of patients with age-related macular degeneration who harbor extramacular neovascular lesions.
The charts of seven patients with age-related macular degeneration and extramacular neovascular lesions who presented to the Casey Eye Institute were reviewed. The number and location of neovascular lesions, fluorescence angiography findings, optical coherence tomography findings, and clinical courses are presented. For willing patients, a blood sample was taken and queried for the known genetic variations associated with macular degeneration in an effort to ascertain whether a particular genotype is characteristic of this group of patients.
Patients with extramacular neovascular lesions tended to also have neovascular macular degeneration (5/7). Of those patients reviewed, three of seven had neovascular macular disease in both eyes, and four of fourteen eyes had macular disciform lesions. Three of seven patients had multiple peripheral neovascular lesions exhibiting hemorrhage or subretinal fluid, with some eyes having two or more active lesions. These patients also exhibited peripheral scarring and fibrosis consistent with additional quiescent lesions. Macular optical coherence tomography findings were similar to those in other paitents with neovascular age-related macular degeneration. Four of fourteen eyes had vision of 20/200 or worse. Genetic analysis is underway at the time of this abstract submission.
While patients with macular degeneration share the common findings which define this disease, there is clear heterogeneity within this patient population. Genetic analysis of patients has demonstrated that there are multiple heritable risk factors for age-related macular degeneration, and it is becoming evident that macular degeneration may be best thought of as a group of related diseases with overlapping disease phenotypes. We have reviewed the clinical data pertaining to a group of patients who seem to exhibit an extreme phenotype, with both relatively aggressive macular disease and foci of extramacular neovascularization. Further elucidation of the characteristics, both clinical and genetic, of these patients may prove useful in the understanding of the pathophysiology of macular degeneration. Specifically, it would be particularly interesting to identify a factor which, when functional, restricts the neovascular process to the macula.
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