Ophthalmic Evaluation of Diagnosed Cases of Eye Cystinosis: A Tertiary Care Center’s Experience

• Main Authors: Malgorzata Kowalczyk, Mario Damiano Toro, Robert Rejdak, Wojciech Załuska, Caterina Gagliano, Przemyslaw Sikora
• Format: Article
• Language: English
• Published: MDPI AG 2020-11-01
• Series: Diagnostics
• Subjects: cystinosis; corneal deposits; cysteamine; nephropathic cystinosis; juvenile cystinosis
• Online Access: https://www.mdpi.com/2075-4418/10/11/911

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.