Radial perivascular retinal degeneration:: A key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations

. PURPOSE: To identify the genetic defect and present the ocular and extraocular findings in a large pedigree of predominantly ocular Stickler syndrome. . DESIGN: Observational case series. . METHODS: An eight,generation pedigree with hereditary retinal detachments was retrospectively and prospectively studied. Clinical information was obtained by medical records, telephone interviews, medical question, naires, detailed ophthalmologic examinations, physical were detected in only four of 100 (4%) affected individuals. Linkage analysis with COL2A1 flanking markers showed evidence for linkage to the COL2A1 locus. The COL2A1 gene analysis identified a mutation converting a codon TGC for cysteine(86) to a premature termination codon in the alternatively spliced exon 2. . CONCLUSIONS: A variant of Stickler syndrome, caused by mutations in exon 2 of COL2A1, may present in families with all of the ocular findings and no clinically identifiable extraocular findings associated with Stickler syndrome. The predominant ocular findings are a congenitally abnormal vitreous and an acquired radial perivascular retinal degeneration that may lead to complicated childhood and adult retinal detachment. (C) 2002 by Elsevier Science Inc. All rights reserved.