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Quoted phrase not found in phrase index: "Stickler syndrome, type 4"
Page 1
Next-generation sequencing-aided precise diagnosis of Stickler syndrome type I.
Wang DD, Gao FJ, Hu FY, Li JK, Zhang SH, Xu P, Chang Q, Jiang R, Wu JH. Wang DD, et al. Acta Ophthalmol. 2020 Jun;98(4):e440-e446. doi: 10.1111/aos.14302. Epub 2019 Nov 17. Acta Ophthalmol. 2020. PMID: 31736238 Free article.
PURPOSE: To explore an early, rapid and precise diagnosis of Stickler syndrome type I (STL1) and to enrich the spectrum of COL2A1 mutations in the Chinese population, which is poorly studied at present. ...
PURPOSE: To explore an early, rapid and precise diagnosis of Stickler syndrome type I (STL1) and to enrich the spectrum …
Risk and Prevention of Retinal Detachments in Patients with Stickler Syndrome.
Naravane AV, Belin PJ, Pierce B, Quiram PA. Naravane AV, et al. Ophthalmic Surg Lasers Imaging Retina. 2022 Jan;53(1):7-11. doi: 10.3928/23258160-20211213-02. Epub 2022 Jan 1. Ophthalmic Surg Lasers Imaging Retina. 2022. PMID: 34982001 Free article.
BACKGROUND AND OBJECTIVE: To report the impact of prophylactic laser retinopexy in the prevention of retinal detachments (RDs) in patients with Stickler syndrome. PATIENTS AND METHODS: This was a retrospective, comparative case series of patients with Stickler …
BACKGROUND AND OBJECTIVE: To report the impact of prophylactic laser retinopexy in the prevention of retinal detachments (RDs) in patients w …
Laser Prophylaxis in Patients with Stickler Syndrome.
Khanna S, Rodriguez SH, Blair MA, Wroblewski K, Shapiro MJ, Blair MP. Khanna S, et al. Ophthalmol Retina. 2022 Apr;6(4):263-267. doi: 10.1016/j.oret.2021.11.001. Epub 2021 Nov 11. Ophthalmol Retina. 2022. PMID: 34774838
PURPOSE: To evaluate the association among laser prophylaxis treatment, retinal detachment (RD), and visual acuity (VA) in patients with Stickler syndrome (SS). DESIGN: Retrospective comparative case series. ...Of the 230 eyes, 92 did not undergo any laser treatment …
PURPOSE: To evaluate the association among laser prophylaxis treatment, retinal detachment (RD), and visual acuity (VA) in patients with …
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 …
Ophthalmic manifestations of Czech dysplasia.
Soh Z, Martin H, Richards AJ, Suri M, Snead MP. Soh Z, et al. Am J Med Genet A. 2024 Apr;194(4):e63480. doi: 10.1002/ajmg.a.63480. Epub 2023 Nov 19. Am J Med Genet A. 2024. PMID: 37982325
Czech dysplasia is an autosomal dominant type 2 collagenopathy that is caused by heterozygosity for the recurrent p....To date, no ophthalmic findings have been reported in patients with Czech dysplasia even though COL2A1 has been implicated in other ocular conditions such …
Czech dysplasia is an autosomal dominant type 2 collagenopathy that is caused by heterozygosity for the recurrent p....To date, no op …
Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment.
Huang L, Chen C, Wang Z, Sun L, Li S, Zhang T, Luo X, Ding X. Huang L, et al. Genes (Basel). 2020 Aug 3;11(8):882. doi: 10.3390/genes11080882. Genes (Basel). 2020. PMID: 32756486 Free PMC article.
Stickler syndrome is a connective tissue disorder that affects multiple systems, including the visual system. ...Forty-two probands diagnosed with Stickler syndrome were included. Comprehensive ocular examinations were performed. ...
Stickler syndrome is a connective tissue disorder that affects multiple systems, including the visual system. ...Forty-two pro …
Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.
Khan AO, AlAbdi L, Patel N, Helaby R, Hashem M, Abdulwahab F, AlBadr FB, Alkuraya FS. Khan AO, et al. Mol Genet Genomic Med. 2021 May;9(5):e1628. doi: 10.1002/mgg3.1628. Epub 2021 May 5. Mol Genet Genomic Med. 2021. PMID: 33951325 Free PMC article.
METHODS: Retrospective consecutive case series (2014-2016) of children (<12 years old) suspected to have Stickler syndrome type collagenopathy by a single ophthalmologist and able to complete genetic testing for this possibility. ...Biallelic mutations in …
METHODS: Retrospective consecutive case series (2014-2016) of children (<12 years old) suspected to have Stickler syndrome …
Associated syndromes in patients with Pierre Robin Sequence.
Karempelis P, Hagen M, Morrell N, Roby BB. Karempelis P, et al. Int J Pediatr Otorhinolaryngol. 2020 Apr;131:109842. doi: 10.1016/j.ijporl.2019.109842. Epub 2019 Dec 30. Int J Pediatr Otorhinolaryngol. 2020. PMID: 31927149
OBJECTIVES: Classically, Pierre Robin Sequence (PRS) is a triad of micrognathia, glossoptosis, and airway obstruction, although frequently associated with cleft palate. Current literature reports that Stickler syndrome is the most common syndrome associated with PRS …
OBJECTIVES: Classically, Pierre Robin Sequence (PRS) is a triad of micrognathia, glossoptosis, and airway obstruction, although frequently a …
Stickler syndrome. Epidemiology of retinal detachment.
Vilaplana F, Muiños SJ, Nadal J, Elizalde J, Mojal S. Vilaplana F, et al. Arch Soc Esp Oftalmol. 2015 Jun;90(6):264-8. doi: 10.1016/j.oftal.2014.11.001. Epub 2015 Mar 25. Arch Soc Esp Oftalmol. 2015. PMID: 25817961 English, Spanish.
OBJECTIVE: A review was performed on all patients with Stickler syndrome that had been treated in our Centre since it was diagnosed, in order to evaluate the risk of suffering a retinal detachment (RD). ...CONCLUSION: In the series presented, retinal detachment in …
OBJECTIVE: A review was performed on all patients with Stickler syndrome that had been treated in our Centre since it was diag …
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 …
46 results