A CASE OF CORNEAL CYSTINOSIS IN A PATIENT WITH CHRONIC RENAL FAILURE

Dr. Nikita Goel, Dr. Sahil Sharma, Dr. Rohit Dureja, Dr. Tanvi Choudhary

Abstract


Cystinosis is a rare autosomal recessive disorder characterized by the intracellular accumulation of disulphide of the
aminoacid cysteine in various organs and tissues. Infantile nephropathic cystinosis is the most severe type. Although renal
disease is the most prominent feature of cystinosis the corneal cysteine crystal formation remains a major complication leading to photophobia,
corneal erosion and keratopathy. Corneal crystal accumulation and pigmentary retinopathy were originally the most commonly described
ophthalmic manifestation but successful kidney transplantation signicantly changed the natural history of the disease. A case of a 9 year old boy
diagnosed with nephrotic cystinosis was reported. He developed renal proximal tubulopathy (or fanconi syndrome) at 7 months of age and then
uprogressed to end stage renal disease. He presented with severe photophobia and decreased visual acuity. Ocular cystinosis was diagnosed on
observing the typical crystals in cornea. OCT showed multiple areas of stromal hyperreectivity due to crystal deposits within the cornea.


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References


Nesterova G, Gahl WA. Cystinosis: The evolution of a treatable disease. Pediatr Nephrol 2013;28:51-9. Back to cited text no. 1

Burki E. Über die Cystinkrankheit im Kleinkindesalter unter besonderer Berücksichtigung des Augenbefundes. Ophthalmologica 1941;101:257-72. Back to cited text no.

De Graaf-Hess A, Trijbels F, Blom H. New method for determining cystine in leukocytes and fibroblasts. Clin Chem 1999;45:2224-8. Back to cited text no. 3

Thoene JG, Oshima RG, Crawhall JC, Olson DL, Sghneder JA. Intracellular cystine depletion by aminothiols in vitro and in vivo. J Clin Invest 1976;58:180-9. Back to cited text no. 4

Lyseng-Williamson K. Cystadrops® (cysteamine hydrochloride 0.55% viscous eye-drops solution) in treating corneal cystine crystal deposits in patients with cystinosis: a profile of its use. Drugs Ther Perspect 2017;33:195. Back to cited text no. 5

US-FDA access data. retrieved on 10 October 2018 from; . Back to cited text no. 6


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