title: Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist.
abstract: The entity described by Gunnar Stickler, which included hereditary arthro-ophthalmopathy 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 involvement--a particularly important group for the ophthalmologist to identify.
authors.affiliation: Vitreoretinal Service, Molecular Genetics and Medical Genetics, Cambridge, UK. mps34@cam.ac.uk
authors.forename: M P
authors.initials: MP
authors.lastname: Snead
authors.forename: A M
authors.initials: AM
authors.lastname: McNinch
authors.forename: A V
authors.initials: AV
authors.lastname: Poulson
authors.forename: P
authors.initials: P
authors.lastname: Bearcroft
authors.forename: B
authors.initials: B
authors.lastname: Silverman
authors.forename: P
authors.initials: P
authors.lastname: Gomersall
authors.forename: V
authors.initials: V
authors.lastname: Parfect
authors.forename: A J
authors.initials: AJ
authors.lastname: Richards
mesh_terms: D001168:Arthritis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D024043:Collagen Type II / Q000235:genetics; D024161:Collagen Type XI / Q000235:genetics; D003240:Connective Tissue Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D006311:Hearing Disorders / Q000209:etiology; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007569:Jaw Abnormalities / Q000209:etiology; D010641:Phenotype; D012163:Retinal Detachment / Q000150:complications / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D014822:Vitreous Body / Q000737:chemistry
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II; D024161:Collagen Type XI