Article

Molecular Characterization of CNTS Mutations in Tunisian Patients with Ocular Cystinosis

2021-11-17

Abstract excerpt

<h4>Background: </h4> 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 cystin...

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Literature Corpus work: c1771519-1ac6-5bac-bf17-cb1691ffb013
DOI: 10.21203/rs.3.rs-1027134/v1

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