gms | German Medical Science

Purpose: Cystinosis is a rare genetic disorder characterized by abnormal cystine accumulation in multiple organs, including the kidneys and eyes. The study aims to explore the relationship between MRNFL and cystinosis, highlighting potential implications for disease monitoring and management.

Methods: A retrospective review was conducted on all patients attending the multidisciplinary cystinosis clinic at Manchester Royal Eye Hospital (MREH) in the last five years. Serial ophthalmologic evaluations, including colour fundus photography and optical coherence tomography (OCT), were performed to assess retinal structural changes.

Results: Fundoscopic examination and imaging revealed progressive MRNFL in multiple patients, with increasing myelination along the retinal nerve fibre layer anterior to the lamina cribrosa. Despite these structural abnormalities, visual acuity remained largely unaffected in most cases.

Conclusions: This case series raises important questions about the pathophysiology linking MRNFL to cystine deposition in patients with nephropathic cystinosis. The clinical significance of MRNFL in this population remains unclear, warranting further investigation into its potential role as a biomarker for disease progression or systemic cystine burden. Future studies should explore underlying mechanisms and long-term visual outcomes associated with this phenomenon.