Genetic variability and ocular phenotype roles in Stickler Syndrome
DOI:
https://doi.org/10.18270/rsb.v11i1.3641Keywords:
Stickler Syndrome, vitreous type, COL2A1, COL11A1, COL9A1, COL9A2, arthro-ophthalmopathy.Abstract
Background: Stickler Syndrome (SS) is an inherited progressive disorder of the collagen connective tissue. Manifestations include ocular, orofacial, skeletal and hearing defects. There are four types of SS and most of them has ocular defects such as high myopia, vitreoretinal degeneration, retinal detachment, and cataracts. It is the most commonly identified inherited cause of retinal detachment in childhood.
Objective: To expand the knowledge about the genes involved in SS and their clinical expression. To describe the role of ocular phenotypes in the diagnostic.
Review Methods: In this review, we consult a high-impact and recently published bibliography. It searches were performed in the computer data bases of PubMed, Hinari, SCIELO and Medline, as well as consulting other web sites including OMIM, ORPHANET, GeneMap, Genetests, Proteins and Gene. Descriptors ‘‘Síndrome de Stickler’’, ‘‘Stickler Syndrome gene’’, ‘‘ocular signs and Stickler Syndrome’’ and ‘‘Stickler Syndrome review’’ were used.
Results: Of the high numbers of articles found, 32 were selected (25 of them from 2016 to present), which reported 4 principal genes causing the syndrome: COL2A1, COL11A1, COL9A1, COL9A2. The COL2A1 and COL11A1 genes are responsible in 95% of patients with SS. Ocular defects are common in majority of SS types.
Conclusions: The diagnosis of SS is based on clinical-radiological criteria and although molecular confirmation is critical but evaluation of the vitreous can be a useful guide for efficient genetic analysis.
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