Should genetic testing be recommended for macular degeneration patients?
Not at this time – according to an editorial in the journal Ophthalmology (Edwards AO. Ophthalmology 2006;113:509-10). The prevalence of one high risk drusen (size greater than 125 m) is estimated at 4.3 million in the 30.5 million white persons 65 years or older in the United States. Given the prevalence of the CFH genetic variation (38%), an estimated 11.5 million white persons 65 or older would carry at least one CFH variant. Many more people would test positive for the CFH variant than have AMD. Also CFH variants probably do not predict the risk of developing complications of AMD. Thus, at this time the diagnosis and management of AMD remains based on clinical examination, not genetic testing.