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Stickler syndrome: exploring prophylaxis for retinal detachment.
Coussa RG, Sears J, Traboulsi EI. Coussa RG, et al. Curr Opin Ophthalmol. 2019 Sep;30(5):306-313. doi: 10.1097/ICU.0000000000000599. Curr Opin Ophthalmol. 2019. PMID: 31313752 Review.
Stickler syndrome is probably the most common cause of genetically determined pediatric rhegmatogenous retinal detachment. ...The majority are caused by hereditary vitreoretinopathies associated with Stickler syndrome. Sixty percent of patients with …
Stickler syndrome is probably the most common cause of genetically determined pediatric rhegmatogenous retinal detachment. ... …
A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature.
Higuchi Y, Hasegawa K, Yamashita M, Tanaka H, Tsukahara H. Higuchi Y, et al. J Med Case Rep. 2017 Aug 26;11(1):237. doi: 10.1186/s13256-017-1396-y. J Med Case Rep. 2017. PMID: 28841907 Free PMC article. Review.
Mutations in the COL2A1, COL11A1, and COL11A2 procollagen genes cause Stickler syndrome. Marshall syndrome, caused by a COL11A1 mutation, has clinical overlap with Stickler syndrome. ...CONCLUSIONS: In this case report, we identify a novel misse …
Mutations in the COL2A1, COL11A1, and COL11A2 procollagen genes cause Stickler syndrome. Marshall syndrome, caused by a …
Hearing impairment in Stickler syndrome: a systematic review.
Acke FR, Dhooge IJ, Malfait F, De Leenheer EM. Acke FR, et al. Orphanet J Rare Dis. 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7-84. Orphanet J Rare Dis. 2012. PMID: 23110709 Free PMC article. Review.
BACKGROUND: Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. ...Overall, mutations in COL11A1 (82.5%) and COL11A2 (94.1%) seem to be more frequently associated with hearing impairment …
BACKGROUND: Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defect …
Clinical and Molecular genetics of Stickler syndrome.
Snead MP, Yates JR. Snead MP, et al. J Med Genet. 1999 May;36(5):353-9. J Med Genet. 1999. PMID: 10353778 Free PMC article. Review.
Mitral valve prolapse was reported to be a common finding in one series but not in our experience. The majority of families with Stickler syndrome have mutations in the COL2A1 gene and show the characteristic type 1 vitreous phenotype. ...Mutations in …
Mitral valve prolapse was reported to be a common finding in one series but not in our experience. The majority of families with Stickler …
The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.
Liberfarb RM, Levy HP, Rose PS, Wilkin DJ, Davis J, Balog JZ, Griffith AJ, Szymko-Bennett YM, Johnston JJ, Francomano CA, Tsilou E, Rubin BI. Liberfarb RM, et al. Genet Med. 2003 Jan-Feb;5(1):21-7. doi: 10.1097/00125817-200301000-00004. Genet Med. 2003. PMID: 12544472 Free article. Review.
PURPOSE: To evaluate a cohort of clinically diagnosed Stickler patients in which the causative mutation has been identified, determine the prevalence of clinical features in this group as a whole and as a function of age, and look for genotype/phenotype correlations. ...CO …
PURPOSE: To evaluate a cohort of clinically diagnosed Stickler patients in which the causative mutation has been identified, determin …
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.
Ewans LJ, Colley A, Gaston-Massuet C, Gualtieri A, Cowley MJ, McCabe MJ, Anand D, Lachke SA, Scietti L, Forneris F, Zhu Y, Ying K, Walsh C, Kirk EP, Miller D, Giunta C, Sillence D, Dinger M, Buckley M, Roscioli T. Ewans LJ, et al. J Med Genet. 2019 Sep;56(9):629-638. doi: 10.1136/jmedgenet-2019-106019. Epub 2019 May 25. J Med Genet. 2019. PMID: 31129566 Review.
RESULTS: Key clinical features included ocular abnormalities with risk for retinal detachment, sensorineural hearing loss, reduced palmar creases, finger contractures, prominent knees, scoliosis, low bone mineral density, recognisable craniofacial dysmorphisms, developmental dela …
RESULTS: Key clinical features included ocular abnormalities with risk for retinal detachment, sensorineural hearing loss, reduced palmar cr …
Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years.
Skalicka P, Porter LF, Brejchova K, Malinka F, Dudakova L, Liskova P. Skalicka P, et al. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2020 Jun;164(2):183-188. doi: 10.5507/bp.2019.017. Epub 2019 Apr 17. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2020. PMID: 31025659 Free article. Review.
AIMS: Brittle cornea syndrome (BCS) is a rare autosomal recessive disorder. The aim of this study was to review ZNF469 mutations associated with BCS type 1 to date and to describe an additional case of Czech/Polish background. ...RESULTS: The proband has been …
AIMS: Brittle cornea syndrome (BCS) is a rare autosomal recessive disorder. The aim of this study was to review ZNF469 mutations asso …