Bowes Rickman Laboratory
Duke University Eye Center








EyeSAGE Candidate Retinal Disease Gene Expression Tables are publicly accessible through the National Eye Institute’s NEIBank.

          The table, RetNet: Summaries of Genes Causing Retinal Diseases, Table B (by Disease), was used to identify retinal diseases that have been mapped to a chromosomal range but for which the actual disease gene has not yet been identified and cloned. The narrowest mapping information was determined from the most recent publication listed on RetNet (as of May 2005), and the delineating sequence tagged sites were translated into base pair numbers using the Ensembl Genome Browser. Using this mapped disease range information, the electronic database, EyeSAGE (1) was queried for genes expressed in the retina and RPE mapped within this region and a table of candidate retina and RPE genes was generated for each retinal disease locus.

          We compiled the EyeSAGE dataset from Serial Analysis of Gene Expression (2) (SAGE) -derived human transcription profiles of the posterior eye generated in our laboratory and SAGE data from other sources. We generated and analyzed the transcription profiles of 3 human neural retina and 2 RPE/choroid SAGE libraries from matched macula and/or mid-peripheral retina and adjacent RPE/choroid of morphologically normal 28-66-year-old donor eyes. The SAGE tag data from these profiles was entered with retina microarray expression profiles and normal human tissue libraries available at the Cancer Genome Anatomy Project's SAGE Genie.

1. Bowes Rickman C., Ebright JN, Zavodni ZJ, Yu L, Wang T, Daiger SP, Wistow G, Boon K and Hauser MA. Defining the Human Macula Transcriptome and Candidate Retinal Disease Genes using EyeSAGE. Invest Ophthalmol Vis Sci. 2006, in press.

2. Velculescu VE, et al. Science, 1995. 270:484-7.



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