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About 278 results

ALLMedicine™ Stickler Syndrome Center

Research & Reviews  106 results

Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missen...
https://doi.org/10.1080/13816810.2022.2068044
Ophthalmic Genetics; Asano M, Yokoyama K et. al.

Apr 28th, 2022 - The aim is to determine the retinal changes in patients with Stickler syndrome caused by a p.R565C missense mutation of the COL2A1 gene. We reviewed the clinical records of 10 eyes of six patients from two families with the Stickler syndrome. The ...

Scleral Buckling for Retinal Detachment Prevention in Genetically Confirmed Stickler Syndrome
https://clinicaltrials.gov/ct2/show/NCT04465188

Apr 7th, 2022 - Stickler syndrome (STL) is a genetic disease affecting several organs. However the major risk is represented by the development of retinal detachment (RD). Up to 80% of patients present a RD and 25% to 80% have sequential bilateral RD. The surgica...

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8892745
Orphanet Journal of Rare Diseases; Rad A, Najafi M et. al.

Mar 5th, 2022 - Stickler syndrome (STL) is a rare, clinically and molecularly heterogeneous connective tissue disorder. Pathogenic variants occurring in a variety of genes cause STL, mainly inherited in an autosomal dominant fashion. Autosomal recessive STL is ul...

Risk and Prevention of Retinal Detachments in Patients with Stickler Syndrome.
https://doi.org/10.3928/23258160-20211213-02
Ophthalmic Surgery, Lasers & Imaging Retina; Naravane AV, Belin PJ et. al.

Jan 5th, 2022 - To report the impact of prophylactic laser retinopexy in the prevention of retinal detachments (RDs) in patients with Stickler syndrome. This was a retrospective, comparative case series of patients with Stickler syndrome from the year 2000 to 201...

Quality of life and phonatory and morphological outcomes in cognitively unimpaired adol...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8527704
Orphanet Journal of Rare Diseases; Thouvenin B, Soupre V et. al.

Oct 22nd, 2021 - Pierre Robin sequence (PRS) is a heterogeneous condition involving retro(micro)gnathia, glossoptosis and upper airway obstruction, very often with posterior cleft palate. Patients with PRS, either isolated or associated with Stickler syndrome have...

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Clinicaltrials.gov  2 results

Scleral Buckling for Retinal Detachment Prevention in Genetically Confirmed Stickler Syndrome
https://clinicaltrials.gov/ct2/show/NCT04465188

Apr 7th, 2022 - Stickler syndrome (STL) is a genetic disease affecting several organs. However the major risk is represented by the development of retinal detachment (RD). Up to 80% of patients present a RD and 25% to 80% have sequential bilateral RD. The surgica...

Prospective Evaluation of Temporomandibular Joint Pathologies in Scoliosis Patients With Ultrasonography and Clinical Examination
https://clinicaltrials.gov/ct2/show/NCT04592133

Apr 13th, 2021 - From the anatomical and functional point of view, stomatognathic system and spine have close connections. Together with the complex neuromuscular relationships, this creates an important area of cooperation between dentists and orthopedics (1). Th...

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News  1 results

Exploring the Genetic Link to Premature Osteoarthritis
https://www.medscape.com/viewarticle/722912

Jun 9th, 2010 - Premature Arthritis Is a Distinct Type II Collagen Phenotype Kannu P, Bateman JF, Randle S, et al Arthritis Rheum. 2010;62:1421-1430 Introduction Osteoarthritis (OA) is extremely common, leading to significant morbidity. Some forms of OA are more ...

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Patient Education  2 results see all →