Characterizing the Phenotype and Genotype of a Family With Occult Macular Dystrophy

摘要

ObjectiveTo characterize the phenotype of a white patient with occult macular dystrophy (OMD) and her clinically unaffected family members and to determine whether similar mutations were present in the RP1L1 gene in this family. Occult macular dystrophy is a rare macular dystrophy with central cone dysfunction hidden behind a normal fundus appearance that has been attributed to a mutation in the retinitis pigmentosa 1–like 1 (RP1L1) gene in 4 Japanese families.