Rare Case Report: Cystinosis

Yagnik Nadir

Abstract: A 16 year old female presented to eye OPD on 22/12/2021 at S.S.G. Hospital, Vadodara with chief complaints of dimness of vision and severe photophobia in both eyes. Patient is a diagnosed case of Nephropathic Cystinosis. She has hypophosphatemic rickets, Hypothyroidism, metabolic acidosis, growth stunting and ocular involvement since 2013. She is on systemic and topical treatment for eye. (Cysteamine capsule and eye drops) Slit lamp examination revealed corneal and conjunctival crystalline deposits. Dilated fundus examination shows OU Disc pallor and peripheral crystalline retinopathy. Patient had genetic test report showing mutation in the gene CTNS, located on chromosome 17, which codes for cystinosin, the lysosomal cystine transporter.

Keywords: Cystinosis, Cysteamine Eye Drops, CTNS Gene