Stickler syndrome due to ocular malformations [8 genes]

Stickler syndrome is a clinically heterogeneous connective tissue disorder that may include ocular findings (vitreoretinopathy, myopia, cataracts), mixed hearing loss, flat midfacial region, cleft palate (isolated or as part of the Robin sequence), mild spondyloepiphyseal dysplasia and/or early osteoarthritis.

At the ocular level, the vitreous alteration can be of two types:

  • Type 1 (membranous): is characterized by a persistence of vestigial vitreous gel in the retrolental space that is delimited by a membrane.
  • Type 2: much less common, it is characterized by scarce and irregularly thickened bundles throughout the vitreous cavity.

The retina can also be affected with reticular degeneration, retinal hole, and retinal tear or detachment.

1/7,500 – 9,000 newborns.

The Stickler syndrome service is recommended when after a global, ophthalmological and exhaustive differential diagnosis, the Stickler syndrome is considered, having clinically discarded the rest. In a syndromic entity such as this one, the definitive genetic diagnosis has enormous value for the patient and family, by completing the search of the ultimate cause of their child’s illness. Likewise, prognostic information about what to expect and the ability to adopt personalized follow-up for the patient based on the patient’s disease, is the best way to alleviate problems associated with vision, such as hearing loss or early osteoarthritis.

Service indicated in case of high clinical suspicion of having a patient with Stickler syndrome.

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Stickler syndrome due to ocular malformations

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Technique: Exome

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Ref. S-202313111

Stickler syndrome due to ocular malformations: View panel

Virtual panel based on whole exome sequencing, aimed at the simultaneous analysis of all genes with high, moderate, and low evidence related to Stickler syndrome based on current literature.

  • BMP4
  • COL11A1
  • COL11A2
  • COL2A1
  • COL9A1
  • COL9A2
  • COL9A3
  • LOXL3

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Phenotypes

Stickler syndrome

References

  1. Robin NH, Moran RT, Ala-Kokko L. Stickler Syndrome. 2000 Jun 9 [Updated 2021 May 6]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1302/
  2. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {108300}: {08/29/2022}: . World Wide Web URL: https://omim.org/.