Purpose: To report a case of ocular cystinosis diagnosed by anterior segment optical coherence tomography (AS-OCT) and histopathology.
Methods: A 67-year-old man who presented with eye pain was found to have unilateral corneal crystal deposition. Ocular cystinosis was diagnosed by histopathology, AS-OCT, and lack of renal involvement of the disease.
Results: AS-OCT showed hyperreflective densities in the corneal epithelium. The patient underwent superficial keratectomy given irregular astigmatism prior to cataract surgery. Electron microscopy of the corneal scrapings revealed epithelial cells with intracystoplasmic membrane-bound crystals confirming the diagnosis of cystinosis.
Conclusion: To our knowledge, this is the first reported case of ocular cystinosis involving strictly the epithelial layer of the cornea that has been imaged by AS-OCT.
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http://dx.doi.org/10.1159/000490389 | DOI Listing |
Biosensors (Basel)
January 2025
Department of Optometry, Seoul National University of Science and Technology, 232 Gongneung-ro, Nowon-gu, Seoul 01811, Republic of Korea.
Ocular cystinosis is a disease in which accumulated cystine crystals cause damage to the eyes, necessitating timely treatment and ongoing monitoring of cystine levels. The current treatment involves frequent administration of cysteamine eye drops, which suffer from low bioavailability and can lead to drug toxicity, making it essential to prescribe an appropriate dosage based on the patient's condition. Additionally, cystine crystal levels are typically assessed subjectively via slit-lamp examination, requiring frequent clinical visits and causing discomfort for the patient.
View Article and Find Full Text PDFPurpose: To evaluate ocular treatment adherence and its impact on clinical outcomes in patients with cystinosis in southwestern Ontario, where the disease incidence is higher due to a founder effect in the Old Order Amish population.
Methods: This was a retrospective case series of patients with ocular cystinosis seen at Victoria Hospital and the Ivey Eye Institute at St Joseph's Health Care in London, Ontario, Canada, from 2008 to 2023. The authors investigated the demographics, ocular manifestations, and visual outcomes and characteristics in pediatric patients with ocular cystinosis.
Cureus
October 2024
Department of Ophthalmology, Cheikh Khalifa International University Hospital, Mohammed VI University of Sciences and Health, Casablanca, MAR.
Infantile cystinosis is a rare systemic hereditary disorder characterized by abnormal cystine accumulation in cells, leading to various complications. Ophthalmological involvement is one of the major complications of this condition and significantly impacts visual prognosis. We report the case of a five-year-old male patient who was followed up for growth retardation, rickets, and refractory metabolic acidosis and was referred to ophthalmology for severe photophobia.
View Article and Find Full Text PDFBiomed Pharmacother
December 2024
Clinical Pharmacology Group, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain. Electronic address:
Br J Ophthalmol
October 2024
Recordati Rare Diseases SARL, Puteaux, France.
Aims: To analyse the correlation between the physician categories defined by the 3C classification (crystal-complication-compliance) and the ocular manifestations of nephropathic cystinosis.
Methods: The last visit data of 64 patients aged between 2 and 64 attending the centre for management of cystinosis were reviewed. Each patient had been placed into one of four categories by the clinician based on disease severity.
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