Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics

Background: Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Main dysfunction is a defective clearance of cystine from lysosomes that leads to accumulation of cystine crystals in every tissue of the body. All ocular structures are affected. Crystal accumulation in the conjunctiva and cornea is the pathognomonic ophthalmic manifestation of cystinosis. Optical coherence tomography (OCT) is a relatively novel non- contact imaging technique for cross-sectional analysis of the anterior and posterior structures of the eye. Methodology: Fifteen confirmed nephropathic cystinosis patients were assessed by history taking, age of onset of symptoms and diagnosis, age of starting the treatment, anthropometric measurements (weight and height) and evaluation of ocular complications through full thorough ocular examination and optical coherence tomography (OCT) examination. Results: All patients included in this study preformed anterior and posterior segment OCT; (14 patients) had anterior segment affection with crystals and (14patients) showed posterior segment macular affection. The mean depth of corneal deposits was 372.68±134.90 with range from 79 to 532 in central cornea, 248.61±179.21with range from 41 to 542 in temporal cornea, 258.12±135.24 with range from 65 to 546 in nasal cornea

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