Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA

Creative Commons License

Ozgul R. K., Bozkurt B., Kiratli H., Ogus A.

EYE, vol.20, no.7, pp.817-819, 2006 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 20 Issue: 7
  • Publication Date: 2006
  • Doi Number: 10.1038/sj.eye.6702024
  • Journal Name: EYE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.817-819
  • Hacettepe University Affiliated: No

Abstract

Background Leber's congenital amaurosis (LCA) is an inherited retinal dystrophy, which causes severe visual impairment in early childhood. Recent molecular genetic studies have linked 11 loci (AIPL1, CRB1, CRX, GUCY2D, RPE65, RDH12, RPGRIP1, TULP1, LCA3, LCA5, and LCA9) to LCA. LCA5 is a new locus, which maps to the 6q11-q16 chromosomal region and was found to be associated with macular coloboma-type LCA in a Pakistani family. Herein, we describe the molecular genetic features of a consanguineous Turkish family in which four children have macular coloboma-type LCA.