Abstract
Background: We aimed to identify diagnosed cases of ocular cystinosis and describe clinical, epidemiological and therapeutic characteristics. Methods: This is a descriptive and retrospective case series. All patients underwent a full check-up examination every 4–6 months by ophthalmologists, nephrologists and other required specialists. Results: Of the seven cases, six (85.7%) were females and one (14.2%) was male. The infantile nephropathic form of cystinosis was observed in five patients and the juvenile nephropathic form in two patients. No patients with the ocular form of cystinosis were identified. Corneal cystine crystals (CCC) were found in all analyzed patients. Severe ocular and general complications of the disease that had been standing for years, connected to the infantile nephropathic form, delayed diagnosis or inappropriate treatment, were observed only in two patients. All patients received topical therapy. No adverse events related to the therapy were observed. Conclusions: Cystinosis is a rare, progressive disease. Early diagnosis and treatment prevent serious complications from numerous systemic organs. Patients require constant systematic monitoring by various specialists.
Highlights
Cystinosis is an autosomal recessive inherited lysosomal storage disease that occurs in approximately 1–2 of 100,000 live births [1]
CTNS gene encodes the lysosomal membrane transporter protein which is responsible for cysteine transport in cells [3,4]
Data of four not included patients, including age, gender, diagnosis based on clinical symptoms, molecular testing and cystine leukocyte counts are known from available medical history
Summary
Cystinosis is an autosomal recessive inherited lysosomal storage disease that occurs in approximately 1–2 of 100,000 live births [1]. He described cystine crystals in the liver and spleen of a 21-months-old child, who died from dehydration and failure to thrive [3]. In 1998, a mutation in the CTNS gene that maps to chromosome 17p13 was firstly associated with this rare disease [2]. Mutations in the CTNS gene result in defective transport. We aimed to identify diagnosed cases of ocular cystinosis and describe clinical, epidemiological and therapeutic characteristics. No patients with the ocular form of cystinosis were identified. Severe ocular and general complications of the disease that had been standing for years, connected to the infantile nephropathic form, delayed diagnosis or inappropriate treatment, were observed only in two patients
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