Retinosis pigmentaria, distrofia en patrón y fundus flavimaculatus no relacionadas con una mutación en el gen de la rodopsina, periferina/RDS y ROM-1

  1. JM Benítez del Castillo 123
  2. MJ Trujillo 123
  3. T Del Río 123
  4. B García 123
  5. C Ayuso 123
  6. J García Sánchez 123
  1. 1 Universidad Complutense de Madrid
    info

    Universidad Complutense de Madrid

    Madrid, España

    ROR 02p0gd045

  2. 2 Fundación Jiménez Díaz
    info

    Fundación Jiménez Díaz

    Madrid, España

    ROR https://ror.org/049nvyb15

  3. 3 Universidad Autónoma de Madrid
    info

    Universidad Autónoma de Madrid

    Madrid, España

    ROR https://ror.org/01cby8j38

Show affiliations +
Journal:
Archivos de la Sociedad Española de Oftalmologia

ISSN: 0365-6691

Year of publication: 2000

Volume: 75

Issue: 4

Pages: 281-286

Type: Article

DIALNET GOOGLE SCHOLAR

More publications in: Archivos de la Sociedad Española de Oftalmologia

Abstract

Purpose: Several families have been described in which a variety of retinal dystrophies were apparently caused by a mutation in the peripherin/RDS gene. We present clinical and genetic findings in a new family affected with a retinal dystrophy with features of retinosis pigmentosa, pattern dystrophy and fundus flavimaculatus in which a mutation in the peripherin/RDS gene has been ruled out. Methods: A screening in the rhodopsin, peripherin/RDS and ROM1 genes was done in the affected members of the family by PCR amplification and SSCP (single strand conformation polymorphism) analysis. Results: No mutation was found in any of the family members. Conclusions: Mutations in other genes may be involved in retinal dystrophies.

Data source: Dialnet