Phenotype Analyi of Patient With the Rik Variant LOC387715 (A69) in Age-related Macular Degeneration Original Reearch Article

Purpoe To examine phenotype of age-related macular degeneration (AMD) patient with the LOC387715 variant (T allele at r10490924, A69). Deign Retropective, obervational cae erie. Method Thi clinic-baed cae erie data et contained 775 unrelated cae of AMD. AMD phenotype of three group, determined by the number of LOC387715 rik allele, were compared regarding the preence or abence of 16 phenotypic feature. Reult The number of AMD cae in each group wa 164 cae (two rik allele), 330 cae (one rik allele), and 281 cae (zero rik allele). The mean age at examination for homozygou carrier of the LOC387715 rik allele wa ignificantly lower (73.9 year) than the age for carrier of one (76.4 year) or no (77.1 year) rik allele (P = .0003). Of the 16 feature analyzed, only AMD grade (P = .00002) wa ignificantly aociated with the LOC387715 variant. A the number of LOC387715 rik allele increaed, the proportion of grade 5 AMD cae increaed in a doe-repone fahion. Concluion The LOC387715 variant appear to be an independent rik factor for grade 5 (neovacular) AMD. Thi variant may alo be aociated with an earlier onet of AMD. Phenotype that ugget a high-rik genotype may prove valuable for diagnotic, therapeutic, and reearch purpoe.