Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis

Abstract 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 photophob...

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Auteurs principaux: Latifa Chkioua, Yessine Amri, Chaima Saheli, Wassila Mili, Sameh Mabrouk, Imen Chabchoub, Hela Boudabous, Wissem Ben Azzouz, Hadhami Ben Turkia, Salima Ferchichi, Neji Tebib, Taieb Massoud, Mohamed Ghorbel, Sandrine Laradi
Format: Artigo
Langue:Inglês
Publié: BMC 2022-05-01
Collection:Diagnostic Pathology
Sujets:
Ocular cystinosis
Cornea crystal
Mutations
CTNS
Tunisian families
Accès en ligne:https://doi.org/10.1186/s13000-022-01221-8
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