Genetic variant of Stickler's syndrome
| Autor: | M. J. Losada Castillo, L. M. Cordovés Dorta, J. A. Abreu Reyes, P. Rocha Cabrera, M. Gómez Resa, M. Serrano García |
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| Rok vydání: | 2018 |
| Předmět: |
030203 arthritis & rheumatology
Retina Mutation Pathology medicine.medical_specialty Retinal pigment epithelium genetic structures business.industry Retinal detachment General Medicine Hyperplasia medicine.disease_cause medicine.disease Phenotype eye diseases 03 medical and health sciences 0302 clinical medicine medicine.anatomical_structure Genetic variation 030221 ophthalmology & optometry Medicine sense organs business Gene |
| Zdroj: | Archivos de la Sociedad Española de Oftalmología (English Edition). 93:139-142 |
| ISSN: | 2173-5794 |
| DOI: | 10.1016/j.oftale.2017.11.003 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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