Ocular cystinosis – Clinical presentation and review of the literature

Abstract

Cystinosis is one of the rarest multisystem lysosomal storage disorders characterized by the accumulation of cystine in lysosomes due to a defective CTNS gene. Infantile nephropathic cystinosis (INC) is the most common and severe phenotype. Varied ocular manifestations have been described in the literature, but few are rarely reported. We are documenting those rare findings in three children who were referred from the Pediatric department. As the disease presents with typical ocular features, they can be used as the diagnostic criteria expediting the time of diagnosis and early institution of therapy and this series highlights this fact.