title: Type 1 Stickler syndrome: a histological and ultrastructural study of an untreated globe.
abstract: OBJECTIVE
  To present a histological and ultrastructural study of an untreated globe in a patient with genetically confirmed type 1 Stickler syndrome.
  
  
  METHODS
  Histological and electron microscopic examinations were performed on the enucleated globe from the proband of a pedigree with type 1 Stickler syndrome. Linkage analysis was carried out using polymorphic markers flanking the COL2A1 gene and the mutation was identified by direct sequencing.
  
  
  RESULTS
  The significant retinal abnormality was incarceration of vitreous collagen within glial strands on the inner surface of an atrophic and gliotic detached retina. The incarcerated collagenous layers contained glial cells and extended from the retina to form strands, some of which contributed to a retrolental membrane. Mutation screening detected a C to T mutation in exon 47 that inserted a premature termination codon into the reading frame of the mRNA. Sequence analysis of three of the four affected children confirmed that they were also heterozygous for the base change. The youngest child's DNA was not analysed.
  
  
  CONCLUSIONS
  The study represents the first evidence of abnormal interactions between pathological vitreous collagen and the inner retina in a patient with type 1 Stickler syndrome with a confirmed mutation in the COL2A1 gene.
authors.affiliation: Princess Alexandra Eye Pavilion, Chalmers Street, Edinburgh, UK. mary.macrae@doctors.org.uk
authors.forename: M E
authors.initials: ME
authors.lastname: MacRae
authors.forename: D V
authors.initials: DV
authors.lastname: Patel
authors.forename: A J
authors.initials: AJ
authors.lastname: Richards
authors.forename: M P
authors.initials: MP
authors.lastname: Snead
authors.forename: J
authors.initials: J
authors.lastname: Tolmie
authors.forename: W R
authors.initials: WR
authors.lastname: Lee
mesh_terms: D000328:Adult; D024043:Collagen Type II / Q000235:genetics; D005123:Eye / Q000648:ultrastructure*; D015785:Eye Diseases, Hereditary / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D008854:Microscopy, Electron; D009154:Mutation; D010375:Pedigree; D012160:Retina / Q000648:ultrastructure; D012163:Retinal Detachment / Q000235:genetics / Q000473:pathology; D013577:Syndrome
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II