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Review
. 2020 Aug 27;10(3):105.
doi: 10.3390/jpm10030105.

Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation

Megan Boothe  1 , Robert Morris  2 , Nathaniel Robin  1
Affiliations
Review

Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation

Megan Boothe et al. J Pers Med. .

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.

Keywords: COL11A1; COL2A1; Stickler Syndrome; genetic testing; next-generation sequencing.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
A child with classic STL1 due to a pathogenic variant in COL2A1 (c.28977_2878insTT). Characteristic midface hypoplasia and micrognathia are present.
See this image and copyright information in PMC

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