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Quoted phrase not found in phrase index: "Stickler syndrome, type 5"
Page 1
The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia.
Jiang Y, Zhou L, Wang Y, Ouyang J, Li S, Xiao X, Jia X, Wang J, Yi Z, Sun W, Jiao X, Wang P, Hejtmancik JF, Zhang Q. Jiang Y, et al. Invest Ophthalmol Vis Sci. 2023 Mar 1;64(3):14. doi: 10.1167/iovs.64.3.24. Invest Ophthalmol Vis Sci. 2023. PMID: 36917121 Free PMC article.
PURPOSE: 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. ...Clinical data of nine patients …
PURPOSE: In previous studies, biallelic LOXL3 variants have been shown to cause autosomal recessive Stickler syndrome in one S …
Severe foveal hypoplasia and macular degeneration in Stickler syndrome caused by missense mutation in COL2A1 gene.
Asano M, Yokoyama K, Oku K, Matsushita I, Kimoto K, Kubota T, Kondo H. Asano M, et al. Ophthalmic Genet. 2022 Aug;43(4):508-512. doi: 10.1080/13816810.2022.2068044. Epub 2022 Apr 26. Ophthalmic Genet. 2022. PMID: 35473494
BACKGROUND: The aim is to determine the retinal changes in patients with Stickler syndrome caused by a p.R565C missense mutation of the COL2A1 gene. ...A correlation of the OCT and FAF images with the genotype is helpful in determining the prognosis of Stickler …
BACKGROUND: The aim is to determine the retinal changes in patients with Stickler syndrome caused by a p.R565C missense mutati …
High Myopia and Strabismus Induced by a Deep Intronic Mutation in COL2A1.
Rossenwasser-Weiss S, Orenstein N, Zahavi A, Goldenberg-Cohen N. Rossenwasser-Weiss S, et al. Curr Eye Res. 2021 Jul;46(7):1051-1055. doi: 10.1080/02713683.2020.1855661. Epub 2020 Dec 9. Curr Eye Res. 2021. PMID: 33295219
Purpose: To characterize a genetic mutation causing Stickler syndrome in a previously undiagnosed family.Methods: Five generations of a single family suspected of having Stickler syndrome were evaluated clinically and genetically.Results: The demograph …
Purpose: To characterize a genetic mutation causing Stickler syndrome in a previously undiagnosed family.Methods: Five generat …
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.
CONCLUSION: Although the molecular determination of a mutation can predict the occurrence of Stickler syndrome, the variability observed in the families described here makes it difficult to predict the severity of the phenotype on the basis of g …
CONCLUSION: Although the molecular determination of a mutation can predict the occurrence of Stickler syndrome, the var …
Genetic testing in four Indian families with suspected Stickler syndrome.
Kandeeban S, Kandale K, Periyasamy P, Bhende M, Bhende P, Sinnakaruppan M, Sarangapani S. Kandeeban S, et al. Indian J Ophthalmol. 2022 Jul;70(7):2578-2583. doi: 10.4103/ijo.IJO_1833_21. Indian J Ophthalmol. 2022. PMID: 35791160 Free PMC article.
PURPOSE: Stickler syndrome is associated with the development of rhegmatogenous retinal detachment (RRD), and often presents with ocular, auditory, skeletal, and orofacial abnormalities. ...CONCLUSION: NGS testing confirmed the presence of the causative gene for …
PURPOSE: Stickler syndrome is associated with the development of rhegmatogenous retinal detachment (RRD), and often presents w …
Stickler syndrome: clinical characteristics and diagnostic criteria.
Rose PS, Levy HP, Liberfarb RM, Davis J, Szymko-Bennett Y, Rubin BI, Tsilou E, Griffith AJ, Francomano CA. Rose PS, et al. Am J Med Genet A. 2005 Oct 15;138A(3):199-207. doi: 10.1002/ajmg.a.30955. Am J Med Genet A. 2005. PMID: 16152640
Molecular confirmation of COL2A1 mutation status (type I Stickler syndrome) was available on 25 patients from six families. In the remaining 65 patients, 47 from 25 families were affected with Stickler syndrome and 18 from seven families were un …
Molecular confirmation of COL2A1 mutation status (type I Stickler syndrome) was available on 25 patients from six famil …
Window of Susceptibility to Acute Otitis Media Infection.
Bajorski P, Fuji N, Kaur R, Pichichero ME. Bajorski P, et al. Pediatrics. 2023 Feb 1;151(2):e2022058556. doi: 10.1542/peds.2022-058556. Pediatrics. 2023. PMID: 36618001 Free PMC article.
RESULTS: Eighty percent of AOMs occurred during child age 6 to 21 months old. Seventy two percent of WOS intervals were <5 months and 97% were <10 months. Clinically applicable models were developed to predict which children would benefit most from tympanostom …
RESULTS: Eighty percent of AOMs occurred during child age 6 to 21 months old. Seventy two percent of WOS intervals were <5 months …
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.
Jiang Y, Xiao X, Sun W, Wang Y, Li S, Jia X, Wang P, Hejtmancik JF, Zhang Q. Jiang Y, et al. J Transl Med. 2024 Jan 19;22(1):75. doi: 10.1186/s12967-024-04886-5. J Transl Med. 2024. PMID: 38243264 Free PMC article.
Exome sequencing identified 21 potential pathogenic variants of 13 genes in 20 of 75 (26.7%) probands, including genes for Stickler syndrome (COL11A1 and COL2A1; 6/20), FEVR (FZD4, LRP5, and TSPAN12; 5/20), and others (FBN1, GPR179, ZEB2, PAX6, GPR143, OPN1LW …
Exome sequencing identified 21 potential pathogenic variants of 13 genes in 20 of 75 (26.7%) probands, including genes for Stickler …
ULTRA-WIDE FIELD FUNDUS AUTOFLUORESCENCE IMAGING OF EYES WITH STICKLER SYNDROME.
Fujimoto K, Nagata T, Matsushita I, Oku K, Imagawa M, Kuniyoshi K, Hayashi T, Kimoto K, Ohji M, Kusaka S, Kondo H. Fujimoto K, et al. Retina. 2021 Mar 1;41(3):638-645. doi: 10.1097/IAE.0000000000002879. Retina. 2021. PMID: 32639332 Free PMC article.
PURPOSE: To determine the characteristics of fundus autofluorescence (FAF) images and visual functions in eyes with Stickler syndrome using ultra-widefield FAF images. METHODS: Forty-six eyes of 26 patients with mutations in the COL2A1 gene underwent ultra-widefield …
PURPOSE: To determine the characteristics of fundus autofluorescence (FAF) images and visual functions in eyes with Stickler syndr …
Case Series of Stickler Syndrome Presenting With Acute Angle Closure.
Walters A, Lambert N, Bricel S, Hwang T, Ing E, Tehrani S. Walters A, et al. J Glaucoma. 2020 Oct;29(10):992-994. doi: 10.1097/IJG.0000000000001591. J Glaucoma. 2020. PMID: 32604152 Free PMC article.
OBSERVATIONS: A 36-year-old female with Stickler syndrome presented with acute onset of red and painful left eye with cloudy vision. ...CONCLUSIONS: Recognizing angle closure as a potential feature of Stickler syndrome can help providers adequat …
OBSERVATIONS: A 36-year-old female with Stickler syndrome presented with acute onset of red and painful left eye with c …
23 results