Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation.
COL11A1
COL2A1
Stickler Syndrome
genetic testing
next-generation sequencing
Journal
Journal of personalized medicine
ISSN: 2075-4426
Titre abrégé: J Pers Med
Pays: Switzerland
ID NLM: 101602269
Informations de publication
Date de publication:
27 Aug 2020
27 Aug 2020
Historique:
received:
09
07
2020
revised:
05
08
2020
accepted:
07
08
2020
entrez:
2
9
2020
pubmed:
2
9
2020
medline:
2
9
2020
Statut:
epublish
Résumé
Stickler Syndrome (SS) is a multisystem collagenopathy frequently encountered by ophthalmologists due to the high rate of ocular complications. Affected individuals are at significantly increased risk for retinal detachment and blindness, and early detection and diagnosis are critical in improving visual outcomes for these patients. Systemic findings are also common, with craniofacial, skeletal, and auditory systems often involved. SS is genotypically and phenotypically heterogenous, which can make recognizing and correctly diagnosing individuals difficult. Molecular genetic testing should be considered in all individuals with suspected SS, as diagnosis not only assists in treatment and management of the patient but may also help identify other at-risk family members. Here we review common clinical manifestation of SS and genetic tests frequently ordered as part of the SS evaluation.
Identifiants
pubmed: 32867104
pii: jpm10030105
doi: 10.3390/jpm10030105
pmc: PMC7564399
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
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