Mohammed Gamal Eldin Fathallah <br/><br/>
Ocular manifestations of nephropathic cystinosi /  
 دراسة تأثر العين فى مرض السيستينوسيس الكلوى  
Mohammed Gamal Eldin Fathallah ; Supervised Neveen Abdelmonem Soliman , Akmal Abdelmonem Rizk , Ahmed Mohamed Badr 
 - Cairo :   Mohammed Gamal Eldin Fathallah ,   2014 
 - 143 P. :   charts , facsimiles ;   25cm 
<br/><br/>Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Pediatrics 
<br/><br/> Background: Nephropathic cystinosis is a rare genetic disease characterized by accumulation of the amino acid cystine in lysosomes throughout the body. Ocular manifestations, particularly corneal cystine crystal formation, remain a major complication of nephropathic cystinosis.Conclusion: Anterior segment ocular manifestations of nephropathic cystinosis are more frequent than posterior segment involvement, being uniformly present in almost all patients beyond infancy. Topical cysteamine therapy is effective in depleting cystine crystals from the avascular cornea. Nevertheless, there is a pressing need for long-acting cysteamine eye drops to enhance patient compliance and improve outcome  
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<br/><br/><label>Subjects--Index Terms: </label>Corneal cystine crystal scoring  Cysteamine eye drops Nephropathic cystinosis