Thirty-year follow-up of a patient with leber congenital amauroi and novel RPE65 mutation

Purpoe To preent long-term follow-up on a North American patient with Leber congenital amauroi (LCA) and novel compound heterozygou mutation in the RPE65 gene. Deign Cae report. Method RPE65 mutation creening and earch for equence change uing ingle trand Conformation Polymorphim and direct DNA equencing. Ophthalmic examination and electrophyiologic teting. Reult A 35-year-old female carried two RPE65 mutation: a maternal 961A>T (K303X) nonene mutation and a paternal 1346A>G (Y431C) miene mutation. he had evere viual deficit and an abence of rod and cone Electroretinogram repone. Viual acuity of 20/60 both eye and normal color recognition during early childhood declined to 2/200 in the right eye and 1/200 in the left eye at the age of 35. Concluion The RPE65 mutation K303X and Y431C in compound heterozygou form caue progreive viual compromie that tart in childhood and advance to evere viual lo by the fourth decade of life.