Cystinosis, Ocular Nonnephropathic

Last update 08 May 2025

Basic Info

Synonyms

Adult-onset cystinosis, CYSTINOSIS, ADULT NONNEPHROPATHIC, CYSTINOSIS, BENIGN NONNEPHROPATHIC

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Introduction

Ocular cystinosis is the benign, adult form of cystinosis (see this term), a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.

100 Clinical Results associated with Cystinosis, Ocular Nonnephropathic

100 Translational Medicine associated with Cystinosis, Ocular Nonnephropathic

0 Patents (Medical) associated with Cystinosis, Ocular Nonnephropathic

101

Literatures (Medical) associated with Cystinosis, Ocular Nonnephropathic

01 Apr 2025·British Journal of Ophthalmology

Evaluation of a new classification system for measuring the progression of ocular cystinosis: an analysis of 64 patients

Article

Author: Liang, Hong ; Giordano, Vincenzo ; Baudouin, Christophe

AimsTo analyse the correlation between the physician categories defined by the 3C classification (crystal-complication-compliance) and the ocular manifestations of nephropathic cystinosis.MethodsThe 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. The correlation between these categories and markers of the disease was assessed using Pearson’s correlation.ResultsPhotophobia (0.647, p<0.001), visual acuity (−0.695, p<0.001), Gahl’s score (0.603, p<0.001), optical coherence tomography (OCT)% (0.713, p<0.001) and in vivo confocal microscopy (IVCM)% (0.845, p<0.001), showed a strong, highly significant correlation between key signs and symptoms and the 3C classification. Corneal complications were strongly correlated with the 3C classification with scores of 0.802 (p<0.001), 0.634 (p<0.001), 0.726 (p<0.001) and 0.677 (p<0.001) for band keratopathy, keratitis, neovascularisation and corneal ulceration, respectively. 75% of those classified as most severe had all four complications. The use of artificial tears and ciclosporin strongly correlated with the categorisation, 0.574 (p<0.001) and 0.631 (p<0.001), respectively. With all cystinosis markers, the 3C classification showed a stronger correlation than age and crystal scores by Gahl’s and OCT. Category and age were strongly correlated (0.656, p<0.001). There was a moderate negative correlation with therapeutic compliance with cysteamine eye-drops and categorisation (−0.422, p<0.001). The compliance pattern observed may help to explain why the disease progresses in some patients.Conclusion3C classification is a reliable tool to categorise ocular cystinosis and can support clinical management decisions allowing more reliable comparison of datasets.

01 Mar 2025·Journal of Pediatric Ophthalmology & Strabismus

Ocular Cystinosis Experience in Southwestern Ontario

Article

Author: Tran, Edward ; Sharan, Sapna ; Makar, Inas ; Grimmer, Joanne

PurposeTo 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.MethodsThis 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. They also conducted qualitative analysis to characterize medication compliance and identify treatment barriers to compliance.Results This study included 14 patients with ocular cystinosis. In southwestern Ontario, the incidence of cystinosis is approximately 1 in 4,700 live births. Most patients were Old Order Amish, with a family history of cystinosis and consanguineous parents. During treatment, patients were typically asymptomatic, but photophobia was the most reported symptom. Slit-lamp examination revealed cystine crystals in the cornea of all patients; however, best corrected visual acuity and intraocular pressure were unremarkable in every case. A Fisher's exact test revealed a trend toward lower compliance in Amish patients compared to non-Amish patients (odds ratio: 0.067, P = .103). Significant treatment barriers for patients with ocular cystinosis were identified, including compliance issues with frequent eye drop regimens, educational and financial burdens, and geographical and cultural challenges, all impacting patient care and follow-up. ConclusionsThis study highlights the need for improved strategies to improve treatment compliance and overcome barriers to care for patients with ocular cystinosis, particularly within the Old Order Amish population in southwestern Ontario, to ensure better clinical outcomes and quality of life. [ J Pediatr Ophthalmol Strabismus . 2025;62(2):105–115.]

01 Jan 2025·Journal of Neurological Surgery Reports

Late Presentation of Congenital Aqueduct Stenosis in Adulthood with High-Riding Basilar Artery: Case Report

Article

Author: Alboesa, Shima ; Alturiki, Hassan Mohammed ; Alramadan, Abdullah H. ; Alqudihi, Batool M.

Abstract Background A rare variant of congenital aqueductal stenosis (CAS) is known as adult-onset CAS, characterized by the emergence of symptoms during adulthood. Case Description A 35-year-old man presented complaining of acute-onset headache and vomiting. Magnetic resonance imaging of the brain revealed an acute hydrocephalus due to an aqueductal web. The patient was treated with a ventriculoperitoneal shunt and doing well. His condition was complicated by subdural hematoma as a result of overshunting, which was treated by frontoparietal craniotomy and eventually, he underwent valve revision to a programmable valve. Conclusion Additional research is needed to gain a deeper understanding of the hypothesis related to adult aqueductal stenosis. This will help shed light on the asymptomatic childhood phase and potentially reduce complications by identifying late CAS early.

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Cystinosis, Ocular Nonnephropathic

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