Purpose: To screen for possible disease-causing mutations in the CRX gene in Chinese patients with Leber congenital amaurosis (LCA) and to enrich the understanding of its mutational phenotype. Methods: Genomic DNA was collected from 27 patients with LCA.The coding sequences of the CRX gene were analyzed using the PCRheteroduplex-SSCP method. Mutations were confirmed by DNA sequencing. Results: We identified two heterozygous variations in the CRX gene in two patients with LCA. One was a deletion (GCCÆ-CC, A181D1bp) leading to a frameshift and protein truncation. This mutation was present in a patient with LCA, but not in his healthy parents. The ocular manifestations of this A181D1bp mutation are described. An intronic variation (IVS1-13G→C) was found in a patient with LCA as well as in his healthy father. Conclusion: A heterozygous A181D1bp mutation in the CRX gene caused an LCA phenotype in a Chinese patient.