Ocular Complications of Infantile Nephropathic Cystinosis.
نویسنده
چکیده
Ocular complications are among the most common cause of discomfort and disability in patients with cystinosis, affecting virtually all individuals with nephropathic cystinosis if left untreated. Photophobia results from accumulation of cystine crystals within the corneal tissue. Compliance with recommended therapy can reverse this change, resulting in resolution of symptoms. Other ocular structures also suffer from cystine accumulation, and early and diligent systemic and local treatment prevents the most severe, irreversible, complications including vision loss.
منابع مشابه
Treatment of corneal cystine crystal accumulation in patients with cystinosis
Cystinosis is a rare autosomal recessive disorder characterized by the accumulation of cystine within the cells of different organs. Infantile nephropathic cystinosis is the most common and severe phenotype. With the success of renal transplantation, these patients are now living longer and thus more long-term complications within different organs are becoming apparent. Ophthalmic manifestation...
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©Copyright 2017 by the Atatürk University School of Medicine Available online at www.eurasianjmed.com ABSTRACT Cystinosis is a rare autosomal recessive metabolic disorder characterized by the accumulation of cystine in lysosomes, which results from defects in the carrier-mediated transport protein encoded by the CTNS gene. Infantile nephropathic cystinosis (INC) is one of the major complication...
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ورودعنوان ژورنال:
- The Journal of pediatrics
دوره 183S شماره
صفحات -
تاریخ انتشار 2017