Mutation Analysis of 3 Genes in Patients With Leber Congenital Amaurosis
Open Access
- 1 April 2000
- journal article
- ophthalmic molecular-genetics
- Published by American Medical Association (AMA) in Archives of Ophthalmology (1950)
- Vol. 118 (4) , 538-543
- https://doi.org/10.1001/archopht.118.4.538
Abstract
LEBER CONGENITAL amaurosis (LCA) is a term used to refer to a group of disorders characterized by severe visual impairment in the first year of life, nystagmus, and a markedly abnormal electroretinogram. The fundus appearance can initially be normal, but macular colobomas, optic disc edema, bone-spicule–like pigmentation, and vascular attenuation are observed.1-3 Most of the genes that cause the clinical phenotype known as LCA are transmitted in an autosomal recessive fashion. A small but significant fraction of patients with LCA will have additional neurologic problems, including developmental delay. An equally small percentage of children who are initially diagnosed as having LCA will retain surprisingly good visual function for decades. This wide range of potential clinical outcomes can make it difficult to provide specific prognostic information in individual cases. There is no medical or surgical intervention that can alter the course of LCA.Keywords
This publication has 17 references indexed in Scilit:
- Fast and sensitive silver staining of DNA in polyacrylamide gelsPublished by Elsevier ,2004
- Allelic variation in ABCR associated with Stargardt disease but not age-related macular degenerationNature Genetics, 1998
- Identification of the gene responsible for Best macular dystrophyNature Genetics, 1998
- De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosisNature Genetics, 1998
- Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosisProceedings of the National Academy of Sciences, 1998
- Cone-Rod Dystrophy Due to Mutations in a Novel Photoreceptor-Specific Homeobox Gene (CRX) Essential for Maintenance of the PhotoreceptorPublished by Elsevier ,1997
- Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophyNature Genetics, 1997
- Identification of a Gene That Causes Primary Open Angle GlaucomaScience, 1997
- The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequencesHuman Genetics, 1992
- Disc oedema in congenital amaurosis of Leber.British Journal of Ophthalmology, 1975