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 photophobia due to cystine crystals in the cornea observed accidently during a routine ocular examination. The ocular cystinosis is associated with different mutations in CTNS gene. Cysteamine therapy mostly corrects the organ abnormalities.

Methods

This study was performed in collaboration with the department of ophthalmology of Farhat Hached Hospital. The Optical Coherence Tomography (OCT) of the cornea and retinal photography were used to search cystine crystals within the corneas and conjunctiv

SUBMITTER: Chkioua L 

PROVIDER: S-EPMC9074260 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature