Article
Pediatric Retinal Detachment in Homozygous Protein C Deficiency: Genetic and Phenotypic Description of a Single Family.
Ophthalmic surgery, lasers & imaging retina - 1 May 2022
Alotaibi Mohammed D, Albakri Amani S, Alsulaiman Sulaiman M
Abstract excerpt
Homozygous protein C deficiency is a rare hypercoagulability disorder. This study describes the ocular manifestations and the genetic background in a family with two affected children. This is a retrospective review of ophthalmic examinations, investigations, genetic testing, and blood work-up of two children with homozygous protein C deficiency from a single family. A family with a positive history of...
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