Article
SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis.
Retina (Philadelphia, Pa.) - 1 Oct 2021
Yahalom Claudia, Volovelsky Oded, Macarov Michal, Altalbishi Alaa, Alsweiti Yahya, Schneider Nina, Hanany Mor, Khan Muhammad Imran, Cremers Frans P M, Anteby Irene, Banin Eyal, Sharon Dror, Khateb Samer
Abstract excerpt
PURPOSE: To report genetic and clinical findings in a case series of 10 patients from eight unrelated families diagnosed with Senior-Løken syndrome. METHODS: A retrospective study of patients with Senior-Løken syndrome. Data collected included clinical findings electroretinography and ocular imaging. Genetic analysis was based on molecular inversion probes, whole-exome sequencing (WES), and Sanger sequencing....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.