Variante genética del síndrome de Stickler

  1. P. Rocha Cabrera
  2. L. Cordovés Dorta
  3. M.A. Serrano García
  4. M.J. Losada Castillo
  5. J.A. Abreu Reyes
  6. M. Gómez Resa
Revista:
Archivos de la Sociedad Española de Oftalmologia

ISSN: 0365-6691

Any de publicació: 2018

Volum: 93

Número: 3

Pàgines: 139-142

Tipus: Article

DOI: 10.1016/J.OFTAL.2017.07.003 DIALNET GOOGLE SCHOLAR

Altres publicacions en: Archivos de la Sociedad Española de Oftalmologia

Resum

Cases reports Three myopic components of a same family came for study because presented severely degraded vitreous, equatorial membranes, retinal pigment epithelium hyperplasia, vascular sheathed and sclerosis of peripheral predominance. A genetic study confirmed the diagnosis of Stickler syndrome with a variant in the mutation of the COL2A1 gene. Discussion Stickler's syndrome should be suspected in families with a characteristic phenotype with vitreous syneresis and alterations in the retina, but there may be genetic variants that do not express the classic phenotype

Fuente de los datos: Dialnet