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Disorders of bone and connective tissue
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Stickler syndrome is a variable autosomal dominant disorder, with characteristic flattened facies, often with cleft palate, severe myopia with frequent retinal detachment, and early osteoarthritis. It is most often caused by mutations in COL2A1, COL11A1 or COL11A2, affecting collagen type II or type X. However, other forms exist, including some rare recessive forms. All forms involve mutations in a collagen gene.
Genetics in Otology and Neurotology
Published in John C Watkinson, Raymond W Clarke, Louise Jayne Clark, Adam J Donne, R James A England, Hisham M Mehanna, Gerald William McGarry, Sean Carrie, Basic Sciences Endocrine Surgery Rhinology, 2018
Stickler syndrome comprises of progressive sensorineural hearing loss, cleft palate, abnormal development of the epiphysis, vertebral abnormalities and osteoarthritis. Three types are recognized, based on the molecular genetic defect: STL1 (COL2A1), STL2 (COL11A1) and STL3 (COL11A2). STL1 and STL2 are characterized by severe myopia, which predisposes to retinal detachment; this aspect of the phenotype is absent in STL3 because COL11A2 is not expressed in the eye.
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Other forms of Stickler syndrome: all of them are much rarer. Stickler syndrome type 2 is caused by mutations in the gene COL11A1 and presents a ‘beaded’ vitreous anomaly; Stickler syndrome type 3 (OSMED recessive type, Weissenbacher-Zweymüller syndrome) (p. 100). An autosomal recessive form of Stickler syndrome has been described and is associated with mutations in the genes COL9A1 and COL9A2.
Streptococcal pyomyositis in asplenia and underlying connective tissue disease
Published in Baylor University Medical Center Proceedings, 2023
John Nguyen, Pardeep Singh, Tapas Gajjar
Stickler syndrome is a connective tissue disease that affects collagen (types II, IX, and XI) in the vitreous, inner ear, and skeleton. Common symptoms of Stickler syndrome include retinal detachment, distinct facies with underdeveloped maxilla, early arthritis along with joint hypermobility that typically resolves in adulthood, sensorineural hearing loss more prevalent with age, and scoliosis.9 The diagnosis of Stickler syndrome is made on clinical symptoms and genetic testing showing abnormal genes associated with collagen formation.10 The more common autosomal dominant Stickler syndrome types involve heterozygous pathogenic variants of COL2A1 (type I) and COL11A1 (type II), and rarer autosomal recessive types involve heterozygous pathogenic variants of COL9A1/COL9A2/COL9A3.10 Some connective tissue diseases such as systemic lupus erythematosus and polymyositis increase infection risk due to impaired immunity or impaired bronchial clearing,8 but no clear infection risk with Stickler syndrome has been described. Additionally, while anti-CCP can be found in 5% to 10% of non–rheumatoid arthritis connective tissue diseases, it has no correlation with Stickler syndrome.11
Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations
Published in Ophthalmic Genetics, 2018
Thomas J. Wubben, Kari H. Branham, Cagri G. Besirli, Brenda L. Bohnsack
This is a retrospective, single-center, case series of patients with Stickler syndrome seen at the University of Michigan, Kellogg Eye Center, Ann Arbor, Michigan between 1 January 1998 and 30 September 2016. Institutional review board approval by the University of Michigan was obtained, and all procedures conformed to the tenets of the Declaration of Helsinki. Patient records were reviewed to confirm a diagnosis of Stickler syndrome via genetic mutation and/or typical systemic and ocular manifestations. Patient demographics, clinical features, genetic testing, and number and type of vitreoretinal and glaucoma procedures performed were recorded.
Clinical and genetic study on two Chinese families with Wagner vitreoretinopathy
Published in Ophthalmic Genetics, 2020
Huajin Li, Hui Li, Lizhu Yang, Zixi Sun, Shijing Wu, Ruifang Sui
Chorioretinal atrophy progress with age in WVR patients (12). Fundoscopy and OCT showed chorioretinal atrophy was more severe in F1-II2 (67 years old) than in F1-III1 (25 years old) and F2-II1 (29 years old), with more pigment deposits around the mid-periphery region. These pigment deposits were mostly in irregular or rounded shape, and clumping together, different from the typical spicule-like pigment deposits in retinitis pigmentosa. FEVR-like peripheral retinal abnormality with exudates was reported in one case (4). Except for similar chorioretinal atrophy, radial perivascular retinal degeneration, and circumferential lattice degeneration are commonly found in Stickler syndrome (38,39). There were limited studies concerning ERG in Wagner vitreoretinopathy. It can be normal in early stage, reduction in both rod and cone responses, and even nonrecordable (8,12). ERG recorded similar degrees of moderate decline of both rod and cone responses in F1-II2 and F1-III1, while remarkably reduced in F2-II1. It indicates that the function of retina was more extensively impaired in F2-II1, though her visual acuity was better. We suspect that there might exist different progression patterns in WVR patients. Consistent with the previous reports (8), all our patients displayed moderate to severe constrictive visual field. The only Chinese WVR family reported by Chen et al. (3) showed similar chorioretinal degeneration and pre-retinal membranes, whereas lack of other clinical information. They shared the same pathogenic variant with F2-II1 (c.4004–1 G > T). No systemic involvements were observed in ours or any reported WVR patients. Though similar in ocular manifestation, Stickler syndrome patients also displayed marked systemic abnormalities, including orofacial malformation, hearing loss, and joint problems (39,40).