J Korean Ophthalmol Soc.  1999 Jul;40(7):2043-2047.

A Case of Stickler`s Syndrome

Affiliations
  • 1Department of Ophthalmology, Soonchunhyang University Hospital, Soonchunhyang University, Seoul, Korea.

Abstract

Stickler`s syndrome is a progressive, connective tissue disease which has an autosomal dominant trait with variable penetrance. Ocular changes include vitreoretinal degenera- tion, retinal pigmentary changes, retinal detachment, chori- oretinal atrophy, cataract and high myopia. Systemically, characteristic facial appearances, musculoskeletal abnormal- ities and hearing loss may be associated. We experienced a sporadic case of Stickler`s syndrome in a neonate and report with a review of the literatures.

Keyword

Ocular changes; Stickler`s syndrome; Systemic findings

MeSH Terms

Atrophy
Cataract
Connective Tissue Diseases
Hearing Loss
Humans
Infant, Newborn
Myopia
Penetrance
Retinal Detachment
Retinaldehyde
Retinaldehyde
Full Text Links
  • JKOS
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr