Abstract

We report case series of 3 children of different subtypes of infantile nephropathic cystinosis, who were referred from the pediatric unit for ocular examination. All had common symptoms of photophobia and a decrease in visual acuity. The anterior segment showed deposition of cystine crystals throughout the corneal stroma and conjunctiva in both eyes (BE). Other findings like limbal stem cell deficiency and pigmentary retinopathy were also seen. There is a panorama of other systemic findings that follows the organ-specific deposition of cysteine crystals. Every case with progressive renal insufficiency should be investigated for cystinosis. This case series highlights the importance of ocular examination in such cases as in the absence of availability or performance of confirmatory genetic testing, the aid of the ocular features can help with timely referral and early initiation of the definitive treatment which can halt the progression with positive repercussions on survival rate.