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TitreOphtalmological analysis of a nephropathic cystinosis with Confocal Microscopy
ButTo document the interest of using Confocal Microscopy for the diagnosis and for the follow up of patients with nephropathic cystinosis
MéthodesCystinosis is a genetic disorder that typically follows an autosomal recessive inheritance pattern. It is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystin within cells, forming crystals than can damage the cells.
These crystals have a negative impact on many systems in the body, especially on the kidneys and the eyes.
A 15-year-old boy was referred to our department for evaluation of an asymptomatic bilateral corneal anomaly.
This patient seemed to have a late-onset nephropathic cystinosis, which is a rare presentation of the disease. It was diagnosed upon observation of typical crystals in his corneas and a story of albuminuria. He didn’t have any sign of renal failure at this time.
We studied the ophtalmological presentation of this disease and we analysed the corneal deposits of cystin with anterior segment pictures and the use of Confocal Microscopy
RésultatsDisseminated punctuate deposits were visible bilaterally with Slit-lamp examination. Confocal microscopy demonstrated randomly oriented crystals in many corneal layers which could be quantified and localised in the depth of the corneas.
ConclusionLate-onset nephropathic cystinosis is a rare presentation of the disease. Confocal microscopy is a very useful tool to diagnose and make the follow-up of patients with nephropathic cystinosis.
Auteur 1
NomSILBERBERG
InitialesD
InstitutHôpital ULB Erasme
VilleBruxelles
Auteur 2
NomVanderperren
InitialesB
Instituthôpital de Jolimont
VilleLa Louvière
Auteur 3
NomKallay
InitialesO
InstitutHôpital ULB Erasme
VilleBruxelles
Auteur 4
NomSchrooyen
InitialesM
InstitutHôpital ULB Erasme
VilleBruxelles
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