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

Abstract：

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 questionnaires, detailed ophthalmologic examinations, physical examinations, and personal observations. Linkage analysis of the COL2A1 gene was performed on 21 family members, and mutation analysis was performed on three family members. RESULTS:The pedigree consisted of 100 affected individuals. The ocular findings, frequently bilateral, consisted of radial perivascular retinal degeneration (RPRD) (100%), vitreous syneresis (100%), high myopia (76%), retinal detachment (65%), presenile cataract development (occurring before 50 years of age; 78%), and glaucoma (18%). Most (70%) of the retinal detachments occurred between 4 and 18 years of age. Extraocular manifestations, characteristic for Stickler syndrome, 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.

journal_name

Am J Ophthalmol

journal_title

American journal of ophthalmology

authors

Parma ES,Körkkö J,Hagler WS,Ala-Kokko L

doi

10.1016/s0002-9394(02)01646-x

subject

Has Abstract

pub_date

2002-11-01 00:00:00

pages

728-34

issue

eissn

0002-9394

issn

1879-1891

pii

S000293940201646X

journal_volume

134

pub_type

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