The Phenotype of Leber Congenital Amaurosis in Patients With AIPL1 Mutations
نویسندگان
چکیده
منابع مشابه
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
OBJECTIVES To describe the phenotype of Leber congenital amaurosis (LCA) in 26 probands with mutations in aryl hydrocarbon receptor interacting protein-like 1 protein (AIPL1) and compare it with phenotypes of other LCA-related genes. To describe the electroretinogram (ERG) in heterozygote carriers. METHODS Patients with AIPL1-related LCA were identified in a cohort of 303 patients with LCA by...
متن کاملDifferential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.
PURPOSE To evaluate genotypic and macular morphologic correlations in patients with RPE65-, CEP290-, GUCY2D-, or AIPL1-related Leber congenital amaurosis (LCA) using spectral-domain optical coherence tomography (SD-OCT). METHODS SD-OCT macular scans were performed in 21 patients, including 10 with RPE65, 7 with CEP290, 3 with GUCY2D, and 1 with AIPL1 mutations. An image processing software wa...
متن کاملEvaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy.
PURPOSE To evaluate the suitability of gene delivery-based approaches as potential treatment of Leber congenital amaurosis 4 (LCA4) due to AIPL1 mutations. METHODS Genomic DNA from patients was analyzed using a microarray chip and direct sequencing. A detailed clinical evaluation including fundus autofluorescence (FAF) and optical coherence tomography (OCT) was performed in patients with AIPL...
متن کاملThe expression of the Leber congenital amaurosis protein AIPL1 coincides with rod and cone photoreceptor development.
PURPOSE The Leber congenital amaurosis (LCA) protein AIPL1 is present only in the rod photoreceptors of the adult human retina and is excluded from the cone photoreceptors. LCA, however, is characterized by an absence of both rod and cone function at birth or shortly thereafter. Therefore, this study was conducted to determine whether AIPL1 is present in the rod and cone photoreceptors of the d...
متن کاملGenotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan.
OBJECTIVES To report the genetic basis of Leber congenital amaurosis (LCA) in northern Pakistan and to describe the phenotype. METHODS DNA from 14 families was analyzed using single-nucleotide polymorphism and microsatellite genotyping and direct sequencing to determine the genes and mutations involved. The history and examination findings from 64 affected individuals were analyzed to show ge...
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ژورنال
عنوان ژورنال: Archives of Ophthalmology
سال: 2004
ISSN: 0003-9950
DOI: 10.1001/archopht.122.7.1029