Ocular manifestations of Seckel syndrome

Citation
Mf. Guirgis et al., Ocular manifestations of Seckel syndrome, AM J OPHTH, 132(4), 2001, pp. 596-597
Citations number
5
Categorie Soggetti
Optalmology,"da verificare
Journal title
AMERICAN JOURNAL OF OPHTHALMOLOGY
ISSN journal
00029394 → ACNP
Volume
132
Issue
4
Year of publication
2001
Pages
596 - 597
Database
ISI
SICI code
0002-9394(200110)132:4<596:OMOSS>2.0.ZU;2-C
Abstract
PURPOSE: To report ophthalmic findings in three siblings with Seckel syndro me. METHODS: Observational case report. Three siblings with Seckel syndrome wer e examined. RESULTS: Severe bilateral pigmentary retinopathy with severe myopia and ast igmatism was found in all three patients. Electroretinography was performed on the eldest sibling and showed no detectable rod or cone responses. CONCLUSION: Severe, early onset, bilateral retinal degeneration with severe myopia and astigmatism may be associated with Seckel syndrome.