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Vol. 93. Issue 3.
Pages 139-142 (March 2018)
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Vol. 93. Issue 3.
Pages 139-142 (March 2018)
Short communication
Genetic variant of Stickler's syndrome
Variante genética del síndrome de Stickler
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P. Rocha Cabreraa,b,
Corresponding author
procha975@yahoo.es

Corresponding author.
, L. Cordovés Dortaa, M.A. Serrano Garcíaa, M.J. Losada Castilloa, J.A. Abreu Reyesa, M. Gómez Resab
a Servicio de Oftalmología, Hospital Universitario de Canarias, Tenerife, Spain
b Servicio de Oftalmología, Hospital Universitario Son Espases , Palma de Mallorca, Spain
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Abstract
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's 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.

Keywords:
Syndrome
Stickler
Myopia
Gene
COL2A1
Genetic variant
Resumen
Casos clínicos

Se remiten para estudio tres pacientes miopes de una misma familia por presentar vítreo degradado de manera severa, membranas ecuatoriales, hiperplasia del epitelio pigmentario de la retina, envainamiento vascular y esclerosis de predominio periférico. Se solicita estudio genético que confirma el diagnóstico de síndrome de Stickler con una variante en la mutación del gen COL2A1.

Discusión

El síndrome de Stickler se debe sospechar en familias que presenten un fenotipo característico con sinéresis vítrea y las referidas alteraciones en la retina, pudiendo existir en ocasiones variantes genéticas que no expresan en su totalidad el fenotipo clásico.

Palabras clave:
Síndrome
Stickler
Miopía
Gen
COL2A1
Variante genética

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