Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis

Carlo Rivolta, Radha Ayyagari, Paul A. Sieving, Eliot L. Berson, Thaddeus P. Dryja

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose: To determine whether pathogenic mutations exist in the ELOVL4 gene in patients with inherited retinal degenerations other than Stargardt-like macular dystrophy or other hereditary macular degenerations. Methods: All six exons comprising the open reading frame of the ELOVL4 gene were evaluated by single-strand conformation analysis, direct nucleotide sequencing, or both methods. Results: No pathogenic mutations were found among 84 patients with autosomal recessive retinitis pigmentosa or among 51 patients with Leber congenital amaurosis (congenital retinal blindness). Conclusions: These data support the conclusion that recessive retinitis pigmentosa and Leber congenital amaurosis are rarely if ever associated with changes in the ELOVL4 gene.

Original languageEnglish (US)
Pages (from-to)49-51
Number of pages3
JournalMolecular vision
Volume9
StatePublished - 2003
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology

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