Volume : IX, Issue : XII, December - 2019

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 significantly 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 hyperreflectivity due to crystal deposits within the cornea.

Keywords :

Article: Download PDF    DOI : 10.36106/ijar  

Cite This Article:

A CASE OF CORNEAL CYSTINOSIS IN A PATIENT WITH CHRONIC RENAL FAILURE, Dr. Nikita Goel, Dr. Sahil Sharma, Dr. Rohit Dureja, Dr. Tanvi Choudhary INDIAN JOURNAL OF APPLIED RESEARCH : Volume-9 | Issue-12 | December-2019

Number of Downloads : 195

References :