Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa.

Autores de IIS La Fe

• 

  José María Millán Salvador

  Autor

• Carmen Ayuso Garcia

  Autor

Participantes ajenos a IIS La Fe

• García-Hoyos M
• Garcia-Sandoval B
• Cantalapiedra D
• Riveiro R
• Lorda-Sánchez I
• Trujillo-Tiebas MJ
• Rodriguez de Alba M
• Baiget M
• Ramos C

Abstract

The X-linked form of retinitis pigmentosa (XLRP) is the most severe type because of its early onset and rapid progression. Five XLRP loci have been mapped, although only two genes, RPGR (for RP3) and RP2, have been cloned. In this study, 30 unrelated XLRP Spanish families were screened to determine the molecular cause of the disease.