A Case of Stickler`s Syndrome.
- Author:
Young Keun HAN
1
;
Song Hee PARK
;
Han Ho SHIN
Author Information
1. Department of Ophthalmology, Soonchunhyang University Hospital, Soonchunhyang University, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Ocular changes;
Stickler`s syndrome;
Systemic findings
- MeSH:
Atrophy;
Cataract;
Connective Tissue Diseases;
Hearing Loss;
Humans;
Infant, Newborn;
Myopia;
Penetrance;
Retinal Detachment;
Retinaldehyde
- From:Journal of the Korean Ophthalmological Society
1999;40(7):2043-2047
- CountryRepublic of Korea
- Language:Korean
-
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.
