Autoomal dominant targardt-like macular dytrophy: identification of a new family with a mutation in the ELOVL4 gene

Purpoe To decribe the clinical feature and identify the mutation reponible for an autoomal dominant macular degeneration occurring in a four-generation family. Method Family member underwent clinical examination and genealogical characterization. Mutation creening of the ELOVL4 gene wa performed. Reult Patient reported viual lo occurring at a mean age of 20 year. Fundu examination revealed varying degree of central macular atrophy with or without fleck in all affected individual. DNA equence analyi howed a 5-bp deletion in exon 6 of the ELOVL4 gene, confirming the diagnoi of autoomal dominant targardt-like macular dytrophy. Genealogical analyi howed that thi family repreent a new affected branch of a previouly decribed 12-generation family (31 branche) with thi diorder. Concluion We characterized a new branch of a family with autoomal dominant targardt-like macular dytrophy. Identification of the dieae-cauing gene allow for improved genetic couneling of affected individual.