Stickler's Syndrome

Nielsen, Claus Ege

doi:10.1111/j.1755-3768.1981.tb02991.x

Cited by 22 publications

(4 citation statements)

References 8 publications

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“…Developmental abnormalities of the anterior chamber drainage angle predispose patients to glaucoma,10 but the most serious ophthalmic complication relates to the high risk of retinal detachment, usually as a result of giant retinal tear formation. At the time of Stickler’s original report, giant retinal tear was generally considered untreatable and blindness ensued.…”

Section: Clinical Featuresmentioning

confidence: 99%

Clinical and molecular genetics of Stickler syndrome

1999

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Stickler syndrome is an autosomal dominant disorder with characteristic ophthalmological and orofacial features, deafness, and arthritis. Abnormalities of vitreous gel architecture are a pathognomonic feature, usually associated with high myopia which is congenital and non-progressive. There is a substantial risk of retinal detachment. Less common ophthalmological features include paravascular pigmented lattice degeneration and cataracts. Non-ocular features show great variation in expression. Children with Stickler syndrome typically have a flat midface with depressed nasal bridge, short nose, anteverted nares, and micrognathia. These features can become less pronounced with age. Midline clefting, if present, ranges in severity from a cleft of the soft palate to Pierre-Robin sequence. There is joint hypermobility which declines with age. Osteoarthritis develops typically in the third or fourth decade. Mild spondyloepiphyseal dysplasia is often apparent radiologically. Sensorineural deafness with high tone loss may be asymptomatic or mild. Occasional findings include slender extremities and long fingers. Stature and intellect are usually normal. 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. The remainder with the type 2 vitreous phenotype have mutations in COL11A1 or other loci yet to be identified. Mutations in COL11A2 can give rise to a syndrome with the systemic features of Stickler syndrome but no ophthalmological abnormality.

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Section: Clinical Featuresmentioning

confidence: 99%

Clinical and molecular genetics of Stickler syndrome

1999

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“…In addition to the characteristic lens opacities, some patients will exhibit congenital abnormalities of the anterior chamber drainage angle, [23][24][25] which may predispose them to a higher risk of glaucoma. Experience suggests, however, that this is a relatively uncommon finding and that in the majority of patients with glaucoma, this is a chronically progressive angle closure phenomenon resulting from retinal detachment and proliferative vitreoretinopathy causing secondary cellular angle occlusion.…”

Section: Ocularmentioning

confidence: 99%

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

Snead

McNinch

Poulson

et al. 2011

Eye

147

141

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The entity described by Gunnar Stickler, which included hereditary arthroophthalmopathy associated with retinal detachment, has recently been recognised to consist of a number of subgroups, which might now more correctly be referred to as the Stickler syndromes. They are the most common clinical manifestation of the type II/XI collagenopathies and are the most common cause of inherited rhegmatogenous retinal detachment. This review article is intended to provide the ophthalmologist with an update on current research, subgroups, and their diagnosis together with a brief overview of allied conditions to be considered in the clinical differential diagnosis. We highlight the recently identified subgroups with a high risk of retinal detachment but with minimal or absent systemic involvementFa particularly important group for the ophthalmologist to identify.

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“…Such findings give credence to the hypothesis that individuals said to have Wagner's disease differ in no important way from patients with Strickler's syndrome, and most patients who have the ocular manifestations of Wagner's disease should be considered to have Stickler syndrome, representing the same entity with a variety of phenotypic expression (Knobloch 1976;Blair et al 1979;Nielsen 1981;Godel et al 198 1). Such a hypothesis in no way alters the concept and apprehension of the vitreoretinoskeletal dysplasias, and enables a more adequate understanding of their behaviour.…”

Section: Discussionmentioning

confidence: 81%

Wagner's Vitreoretinal Degeneration With Generalized Epiphyseal Dysplasia

Godel

Lazar

1982

Acta Ophthalmologica

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Wagner's vitreoretinal degeneration, midline facial defects and a moderate generalized epiphyseal dysplasia defined radiologically were encountered in a boy and his father. The familial nature of the condition and its autosomal dominant inheritance are described. Suggestions are made that patients said to have Wagner's disease differ in no way radiologically from cases diagnosed as having Stickler's syndrome.

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Stickler's Syndrome

Cited by 22 publications

References 8 publications

Clinical and molecular genetics of Stickler syndrome

Clinical and molecular genetics of Stickler syndrome

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

Wagner's Vitreoretinal Degeneration With Generalized Epiphyseal Dysplasia

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