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About 315 results

ALLMedicine™ Stickler Syndrome Center

Research & Reviews  116 results

The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Com...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10019489
Investigative Ophthalmology & Visual Science; Jiang Y, Zhou L et. al.

Mar 15th, 2023 - In previous studies, biallelic LOXL3 variants have been shown to cause autosomal recessive Stickler syndrome in one Saudi Arabian family or autosomal recessive early-onset high myopia (eoHM, MYP28) in two Chinese families. The current study aims t...

Retinal Detachment Prophylaxis for Patients With Stickler Syndrome: A Survey of Pediatr...
https://doi.org/10.3928/23258160-20230119-01
Ophthalmic Surgery, Lasers & Imaging Retina; Naravane AV, Belin PJ et. al.

Feb 14th, 2023 - Stickler syndrome is the most common inherited cause of pediatric rhegmatogenous retinal detachment. The purpose of this study was to survey pediatric retinal surgeon preferences for prophylactic treatment of Stickler syndrome patients. A voluntar...

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

Feb 8th, 2023 - 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...

LEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER ...
https://doi.org/10.1097/IAE.0000000000003691
Retina (Philadelphia, Pa.); Magliyah MS, Almarek F et. al.

Feb 3rd, 2023 - To describe the features of retinal detachments and high myopia in patients with novel pathogenic variants in LEPREL1 and report a possible association with nephropathy. Retrospective study of 10 children with biallelic LEPREL1 pathogenic variants...

Sudden Refusal to Walk in a Child with Stickler Syndrome.
https://doi.org/10.1542/pir.2021-004997
Pediatrics in Review; Barrette LX, Silverman BL et. al.

Dec 1st, 2022 - Sudden Refusal to Walk in a Child with Stickler Syndrome.|2022|Barrette LX,Silverman BL,Lee C,Van Pelt AL,|diagnosis,

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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

Feb 8th, 2023 - 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  7 results see all →