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


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

EYE, cilt.20, ss.817-819, 2006 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 20 Konu: 7
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1038/sj.eye.6702024
  • Dergi Adı: EYE
  • Sayfa Sayıları: ss.817-819

Özet

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.