Article
The distinct ophthalmic phenotype of Knobloch syndrome in children.
The British journal of ophthalmology - 1 Jun 2012
Khan Arif O, Aldahmesh Mohammed A, Mohamed Jawahir Y, Al-Mesfer Saleh, Alkuraya Fowzan S
Abstract excerpt
BACKGROUND: Knobloch syndrome is defined as a triad of occipital defect, high myopia and vitreo-retinal degeneration (often with later retinal detachment); however, the ocular phenotype is not well defined. This report characterises eye findings of the syndrome in children with genetically confirmed disease. METHODS: Case series of Saudi children with previously documented homozygous mutations in COL18A1 or...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.