Article
Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children.
European journal of ophthalmology - 1 Nov 2021
Levinger Nadav, Hendler Karen, Banin Eyal, Hanany Mor, Kimchi Adva, Mechoulam Hadas, Meiner Vardiella, Parag Yoav, Sharon Dror, Macarov Michal, Yahalom Claudia
Abstract excerpt
PURPOSE: Knobloch syndrome is a rare, recessively inherited disorder classically characterized by high myopia, retinal detachment, and occipital encephalocele. Our aim is to report the clinical and genetic findings of four Israeli children affected by Knobloch syndrome. METHODS: Retrospective study of four patients diagnosed with Knobloch syndrome, who underwent full ophthalmic examination, electroretinography,...
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