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Ophthalmic manifestations of cystinosis: report of two cases

Poster Details

First Author: L.Martin Perez SPAIN

Co Author(s):    L. Modamio Gardeta   M. Matilla Rodero   I. Villarejo   S. De Manuel   K. Naon   E. Escobar     

Abstract Details


To Describe two clinical cases diagnosed in our centre with corneal cystinosis.


We present two patients incidentally diagnosed with ocular cystinosis in our clinic who underwent anterior segment photography, endothelial cell count and confocal microscopy. They were followed-up for 1 year.


Cystinosis is a severe congenital disorder derived from the accumulation of the amino acid cystine within cellular lysosomes. We report the case reports of two women, both asymptomatic, who came to the clinic for a regular eye examination. Their mean age was 74 years, they both had a visual acuity (VA) of 6/6. The presumptive diagnosis was made by the typical uniform needle-shaped structures deposited in the cornea, and its identification on endothelial cell count and confocal microscopy. They have not received specific treatment, and both patients have been monitored and have remained asymptomatic throughout their year follow-up.


: In this case reports both diagnosis were incidental and after a year´s follow-up they have not required treatment.


Patients with corneal cystinosis may be diagnosed with slit-lamp biomicroscopy, and confocal microscopy. In our case reports, both patients were adults, women and the diagnosis was incidental. No specific treatment was prescribed and the follow-up was superior than 1 year

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