July - September 2020

A Rare Case of ocular cystinosis with systemic involvement

Thakkar UH1*, Solanki AH 2, Ganvit SS3

1.PG resident, Department of Ophthalmology, SSG hospital,Vadodara
2.Tutor, Department of Ophthalmology, SSG hospital,Vadodara
3. Head Of Department, Department of Ophthalmology, SSG hospital,Vadodara


A 13 year old female came to ophthalmic opd on 17/01/2019 at S.S.G. Hospital, Vadodara with complaints of dimness of vision and severe photophobia in both eyes. Patient is a known case of Nephrogenic Cystinosis with Hypothyroidism with Rickets with ocular cystinosis since 2013 and on systemic medication and cystinosine eds. Slit lamp examination shows crystalline deposition in corneal stroma and subepithelium of palpebral conjunctiva. D fundus examination shows B/E Pale Disc ( R/E > L/E ) with RPE mottling present with multiple yellowish flecks cystine crystal present in RPE layer. Genetic test shows positive result for homozygous pathogenic variant identified in CTNS C 18-21 del GACT in CTNS.

Keywords: Ocular Cystinosis, Cysteamine Eye Drops, RPE Mottling, CTNS Gene

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