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  • Title: Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations.
    Author: Al-Khayer K, Hagstrom S, Pauer G, Zegarra H, Sears J, Traboulsi EI.
    Journal: Am J Ophthalmol; 2004 Feb; 137(2):375-7. PubMed ID: 14962443.
    Abstract:
    PURPOSE: To present long-term follow-up on a North American patient with Leber congenital amaurosis (LCA) and novel compound heterozygous mutations in the RPE65 gene. DESIGN: Case report. METHODS: RPE65 mutation screening and search for sequence changes using Single Strand Conformation Polymorphism and direct DNA sequencing. Ophthalmic examination and electrophysiologic testing. RESULTS: A 35-year-old female carried two RPE65 mutations: a maternal 961A>T (K303X) nonsense mutation and a paternal 1346A>G (Y431C) missense mutation. She had severe visual deficits and an absence of rod and cone Electroretinogram responses. Visual acuity of 20/60 both eyes 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. CONCLUSIONS: The RPE65 mutations K303X and Y431C in compound heterozygous form cause progressive visual compromise that starts in childhood and advances to severe visual loss by the fourth decade of life.
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