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Ajoy Vincent, Rajeev Muni, Peter Kertes, Hazel Shillingford-Ricketts, Leslie Mackeen, Catherine Deveault, Elise Héon; Phenotype-genotype Characterization Of "La Plaine Polypoidal-like Macular Degeneration". Invest. Ophthalmol. Vis. Sci. 2011;52(14):5252.
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To study the clinical phenotype of age related "La Plaine macular degeneration", a polypoidal choroidal vasculopathy (PCV) like disease that affect subjects of La Plaine Health District in Dominica; and to explore its association to common genetic variants reported in age related macular degeneration (AMD) and classical PCV.
Participants were recruited from various health districts in Dominica respecting the Tenets of the Declaration of Helsinki. Subjects underwent a comprehensive eye exam, personal medical and family health questionnaire, and blood sampling for DNA extraction. Genotyping included direct sequencing of the coding region of TIMP3 and EFEMP1. Association analysis of allele and genotype frequencies was performed for haplotype-tagging single nucleotide polymorphisms (htSNPs) on CFH [Y402H (rs1061170), IVS14 (rs1410996), IVS1 (rs529825) and IVS6 (rs3766404)], ARMS2 [A69S (rs10490924)], CFB [H9L (rs4151667)] and C2 [IVS10 (rs547154)] genes.
Forty eight of the 134 individuals recruited were affected (mixed European and African ancestry). The disease observed in older adults (Age Range 50-103 years), has a female preponderance (3:1) and progressed with age. Visual impairment was noted in all; loss of light perception was noted in five. In the early stage, mid-peripheral retinal drusen were noted whereas in late stages, extensive scarring and disciform changes predominate. Familial disease was seen in 40% cases. No mutation was identified in either TIMP3 or EFEMP1. The htSNPs observed differed from previously published AMD and PCV risk factor haplotypes.
"La Plaine macular degeneration" described here for the first time clinically mimics PCV. The genetic risks for this macular degeneration appear to be population specific. The clinical and genetic characterization provides better disease understanding and could help in possible clinical intervention.
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