Stickler Syndrome — Research Summary
Printed from RareWays (rareways.com.au) on 11 September 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Diagnosis of rare diseases based on craniofacial phenotype: a quantitative assessment using 2D and 3D photography in Stickler syndrome
Adèle Rohée‐Traoré et al. — Journal of Cranio-Maxillofacial Surgery (1 September 2026)
https://doi.org/10.1016/j.jcms.2026.109584
- 2.
Multimodal Imaging of Fundus Abnormalities in Stickler Syndrome: Characterization of 15 Distinct Features Using UWF SS-OCTA
Yarou Hu et al. — Ophthalmology Science (1 September 2026)
https://doi.org/10.1016/j.xops.2026.101397
- 3.
Radial lattice degenerations and foveal hypoplasia: Late diagnosis of Stickler syndrome in a patient without high myopia.
Puchol-Rizo M et al. — Archivos de la Sociedad Espanola de Oftalmologia (1 September 2026)
https://pubmed.ncbi.nlm.nih.gov/41997526/
- 4.
Stickler syndrome type 1: case series and new genetic variants.
Landeras L et al. — Revista clinica espanola (12 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42586422/
- 5.
Nebular Cortical Cataract in Stickler Syndrome.
Gehrke Ella J et al. — Ophthalmology (1 August 2026)
https://pubmed.ncbi.nlm.nih.gov/41823914/
Clinical Trials — Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Recruiting — Sanford Health
https://clinicaltrials.gov/study/NCT01793168
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Stickler Syndrome
Stickler syndrome is an inherited disorder of connective tissue caused by changes in collagen genes. It can affect the eyes with severe short-sightedness and a high risk of retinal detachment, the ears with hearing loss, and the joints with early arthritis. Some people also have a cleft palate or a small lower jaw. Care involves regular eye, hearing and joint review, with prompt treatment of retinal problems.
Most Recent Research
Common Questions
What is Stickler Syndrome?
Stickler syndrome is an inherited disorder of connective tissue caused by changes in collagen genes. It can affect the eyes with severe short-sightedness and a high risk of retinal detachment, the ears with hearing loss, and the joints with early arthritis. Some people also have a cleft palate or a small lower jaw. Care involves regular eye, hearing and joint review, with prompt treatment of retinal problems.
How many clinical trials are available for Stickler Syndrome?
RareWays currently indexes 4 clinical trials for Stickler Syndrome, of which 2 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Stickler Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
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This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.