Age-related macular degeneration in grandparent of patient with targardt dieae: genetic tudy Original Reearch Article

PURPOE: To report clinical feature and molecular genetic tudy in three unrelated familie in which age-related macular degeneration wa oberved in grandparent of patient with targardt dieae. METHOD: A complete ophthalmologic examination including bet-corrected viual acuity meaurement, fundu examination, and fluorecein angiography wa performed on all member of the three familie. The entire coding equence of the ABCR gene wa analyzed uing a combination of ingle trand conformation polymorphim and direct equence analyi of the 50 exon. REULT: Compound heterozygou miene mutation were oberved in patient with targardt dieae (Arg212Cy, Arg1107Cy, Gly1977er, Arg2107Hi, and le2113Met). Heterozygou miene mutation were oberved in the grandparent with age-related macular degeneration (Arg212Cy and Arg1107Cy). CONCLUION: We report phenotype and genotype finding in three unrelated familie egregating patient with targardt dieae and age-related macular degeneration. The hypothei that the Arg212Cy and Arg1107Cy ABCR gene mutation could be uceptibility factor for age-related macular degeneration i dicued. We peculate that the relative of patient affected with targardt dieae who are carrier of heterozygou ABCR gene mutation may have a higher rik of developing age-related macular degeneration.