Crystalline Like Keratopathy Revealing A Cystinosis
Published 2023 - 41st Congress of the ESCRS
Reference: PO0783 | DOI: 10.82333/axds-c471
Authors: Nouha Nassiri* 1 , Abdellah Amazouzi 1 , Saad Benchekroun 2 , Lalla Ouafa Cherkaoui 1
1Ophtalmology A ,Hôpital de spécialité Ibnoussina University Hospital ,Rabat,Morocco, 2Ophtalmology A ,Hôpital de spécialité Ibnoussina University Hospital,Rabat,Morocco
The purpose of this case report is to understand the importance of the genetic study in cystinosis and its ocular implication
OCT ANTERIOR SEGMENT / TOPOGRAPHY / GENETICS ANALYSIS
we focused on a case study about a 30 yo man with no prior ocular nor systemic diseases, who consults for severe photophobia and a bilateral decreased visual acuity
Cystinosis is caused by a defect in the transport of cystine out of lysosomes. The intralysosomal accumulation of cystine induces the formation of insoluble crystals responsible for a progressive multivisceral failure.The severity of the disease is essentially based on the renal damage which can threaten the patient-life. For adults, the ocular damage is often isolated, and mainly causes a photophobia. Thus, corneal involvement is constant and consists of progressif accumulation of fusiform crystals deposits in the corneal stroma, and progressing from the anterior stroma towards the endothelium.
In the most advanced stages, limbal corneal neovascularization is sometimes found.
Cystinosis is a serious metabolic disease because of its unfarvovable prognosis, both vital (renal damage) and functional (ocular), therefore a genetic screening test is necessary