Article
Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations.
Scientific reports - 16 Sept 2020
Beryozkin Avigail, Khateb Samer, Idrobo-Robalino Carlos Alberto, Khan Muhammad Imran, Cremers Frans P M, Obolensky Alexey, Hanany Mor, Mezer Eedy, Chowers Itay, Newman Hadas, Ben-Yosef Tamar, Sharon Dror, Banin Eyal
Abstract excerpt
FAM161A mutations are the most common cause of autosomal recessive retinitis pigmentosa in the Israeli-Jewish population. We aimed to characterize the spectrum of FAM161A-associated phenotypes and identify characteristic clinical features. We identified 114 bi-allelic FAM161A patients and obtained clinical records of 100 of these patients. The most frequent initial symptom was night blindness. Best-corrected...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.