Article
Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis.
Diagnostic pathology - 6 May 2022
Chkioua Latifa, Amri Yessine, Saheli Chaima, Mili Wassila, Mabrouk Sameh, Chabchoub Imen, Boudabous Hela, Azzouz Wissem Ben, Turkia Hadhami Ben, Ferchichi Salima, Tebib Neji, Massoud Taieb, Ghorbel Mohamed, Laradi Sandrine
Abstract excerpt
BACKGROUND: Ocular cystinosis is a rare autosomal recessive disorder characterized by intralysosomal cystine accumulation in renal, ophthalmic (cornea, conjunctiva), and other organ abnormalities. Patients with ocular cystinosis are mostly asymptomatic and typically experience mild photophobia due to cystine crystals in the cornea observed accidently during a routine ocular examination. The ocular cystinosis is...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.