Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation.
J Pers Med
; 10(3)2020 Aug 27.
Article
in En
| MEDLINE
| ID: mdl-32867104
ABSTRACT
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Type of study:
Prognostic_studies
/
Screening_studies
Language:
En
Journal:
J Pers Med
Year:
2020
Document type:
Article
Affiliation country:
United States