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

Abstract excerpt

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...

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