Article
Genetic variant of Stickler's syndrome.
Archivos de la Sociedad Espanola de Oftalmologia - 1 Mar 2018
Rocha Cabrera P, Cordovés Dorta L, Serrano García M A, Losada Castillo M J, Abreu Reyes J A, Gómez Resa M
Abstract excerpt
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...
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