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Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review.
Boysen KB, La Cour M, Kessel L. Boysen KB, et al. Ophthalmic Genet. 2020 Jun;41(3):223-234. doi: 10.1080/13816810.2020.1747092. Epub 2020 Apr 21. Ophthalmic Genet. 2020. PMID: 32316871
BACKGROUND: Stickler syndrome is a collagenopathy caused by mutations in the genes COL2A1 (STL1) or COL11A1 (STL2). ...Sight-threatening complications such as retinal detachments are common but although prophylactic therapy is reported to be effective in retrospecti …
BACKGROUND: Stickler syndrome is a collagenopathy caused by mutations in the genes COL2A1 (STL1) or COL11A1 (STL2). ...Sight-t …
Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations.
Wubben TJ, Branham KH, Besirli CG, Bohnsack BL. Wubben TJ, et al. Ophthalmic Genet. 2018 Oct;39(5):615-618. doi: 10.1080/13816810.2018.1509355. Epub 2018 Aug 21. Ophthalmic Genet. 2018. PMID: 30130436 Clinical Trial.
BACKGROUND: Few reports on surgical outcomes after retinal detachment in Stickler syndrome exist. Also, infantile-onset glaucoma associated with Stickler syndrome has been rarely reported and no reports exist that examine outcomes after glaucoma surger …
BACKGROUND: Few reports on surgical outcomes after retinal detachment in Stickler syndrome exist. Also, infantile-onset glauco …
The clinical effectiveness and safety of prophylactic retinal interventions to reduce the risk of retinal detachment and subsequent vision loss in adults and children with Stickler syndrome: a systematic review.
Carroll C, Papaioannou D, Rees A, Kaltenthaler E. Carroll C, et al. Health Technol Assess. 2011 Apr;15(16):iii-xiv, 1-62. doi: 10.3310/hta15160. Health Technol Assess. 2011. PMID: 21466760 Free PMC article. Review.
BACKGROUND: Stickler syndrome, also known as hereditary progressive arthro-ophthalmopathy, is an inherited progressive disorder of the collagen connective tissues. ...FUTURE WORK: A service priority is to determine reliably the prevalence of Stickler syndr …
BACKGROUND: Stickler syndrome, also known as hereditary progressive arthro-ophthalmopathy, is an inherited progressive disorde …
Retinal Detachment Prophylaxis for Patients With Stickler Syndrome: A Survey of Pediatric Retinal Specialist Treatment Preferences.
Naravane AV, Belin PJ, Quiram PA. Naravane AV, et al. Ophthalmic Surg Lasers Imaging Retina. 2023 Feb;54(2):102-107. doi: 10.3928/23258160-20230119-01. Epub 2023 Feb 1. Ophthalmic Surg Lasers Imaging Retina. 2023. PMID: 36780636
BACKGROUND AND OBJECTIVE: 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 …
BACKGROUND AND OBJECTIVE: Stickler syndrome is the most common inherited cause of pediatric rhegmatogenous retinal detachment. …
Association Between Occlusion Therapy and Optotype Visual Acuity in Children Using Data From the Infant Aphakia Treatment Study: A Secondary Analysis of a Randomized Clinical Trial.
Drews-Botsch C, Celano M, Cotsonis G, Hartmann EE, Lambert SR; Infant Aphakia Treatment Study Group. Drews-Botsch C, et al. JAMA Ophthalmol. 2016 Aug 1;134(8):863-9. doi: 10.1001/jamaophthalmol.2016.1365. JAMA Ophthalmol. 2016. PMID: 27228110 Free PMC article. Clinical Trial.
DESIGN, SETTING, AND PARTICIPANTS: This study was a secondary analysis of a randomized clinical trial (Infant Aphakia Treatment Study) of infants born from August 1, 2004, through December 31, 2008, who were treated with 1 of 2 treatments for unilateral conge …
DESIGN, SETTING, AND PARTICIPANTS: This study was a secondary analysis of a randomized clinical trial (Infant Aphakia T …
Basedow-Graves' disease in a pediatric patient with Sticlker syndrome, a new endocrine finding to improve personalized treatment.
Onesimo R, De Rose C, Cipolla C, Casa SD, Leoni C, Salerni A, Ricci D, Zampino G. Onesimo R, et al. Ital J Pediatr. 2020 Dec 1;46(1):178. doi: 10.1186/s13052-020-00945-x. Ital J Pediatr. 2020. PMID: 33256801 Free PMC article.
BACKGROUND: Stickler syndrome is a connective tissue disorder with predominantly autosomal dominant inheritance, with ocular, auditory and joint involvement. ...CONCLUSIONS: This is the first evidence of thyroid dysfunction and autoimmune pattern for Sticker syndrom …
BACKGROUND: Stickler syndrome is a connective tissue disorder with predominantly autosomal dominant inheritance, with ocular, …
Myopic Shift 5 Years after Intraocular Lens Implantation in the Infant Aphakia Treatment Study.
Weakley DR Jr, Lynn MJ, Dubois L, Cotsonis G, Wilson ME, Buckley EG, Plager DA, Lambert SR; Infant Aphakia Treatment Study Group. Weakley DR Jr, et al. Ophthalmology. 2017 Jun;124(6):822-827. doi: 10.1016/j.ophtha.2016.12.040. Epub 2017 Feb 16. Ophthalmology. 2017. PMID: 28215452 Free PMC article. Clinical Trial.
Exclusions included 11 patients with glaucoma, 1 patient with Stickler syndrome, and 1 patient with an IOL exchange at 8 months postoperatively. ...
Exclusions included 11 patients with glaucoma, 1 patient with Stickler syndrome, and 1 patient with an IOL exchange at 8 month …
Death associated with an indwelling orbital catheter.
Garg S, Piva A, Sanchez RN, Sadun AA. Garg S, et al. Ophthalmic Plast Reconstr Surg. 2003 Sep;19(5):398-400. doi: 10.1097/01.IOP.0000087030.65206.3D. Ophthalmic Plast Reconstr Surg. 2003. PMID: 14506426
At autopsy, it was noted that the catheter passed through the superior orbital fissure, with evidence of injection of marcaine in the subarachnoid space. This patient had signs and symptoms of Stickler syndrome. This leads us to believe that deficiencies in collagen …
At autopsy, it was noted that the catheter passed through the superior orbital fissure, with evidence of injection of marcaine in the subara …
Familial high myopia: evidence of an autosomal dominant mode of inheritance and genetic heterogeneity.
Naiglin L, Clayton J, Gazagne C, Dallongeville F, Malecaze F, Calvas P. Naiglin L, et al. Ann Genet. 1999;42(3):140-6. Ann Genet. 1999. PMID: 10526656 Clinical Trial.
In order to precise its genetic background, we performed a segregation analysis on 32 French families (320 subjects including 120 individuals with clinical data) containing at least one high myopic person in their genealogy. ...Different candidate loci were tested: collage …
In order to precise its genetic background, we performed a segregation analysis on 32 French families (320 subjects including 120 individual …
11 results