Benign cystinosis with corneal cystine crystal accumulation

Benign cystinosis with corneal cystine crystal accumulation refers to ocular, non-nephropathic cystinosis, an autosomal recessive lysosomal storage disorder caused by pathogenic variants in the CTNS gene Affected individuals commonly present with severe photophobia, ocular discomfort, blepharospasm, and recurrent corneal erosions, which can progressively compromise visual acuity if left unmanaged

Benign cystinosis with corneal cystine crystal accumulation refers to ocular, non-nephropathic cystinosis, an autosomal recessive lysosomal storage disorder caused by pathogenic variants in the CTNS gene

Benign cystinosis with corneal cystine crystal accumulation refers to ocular, non-nephropathic cystinosis, an autosomal recessive lysosomal storage disorder caused by pathogenic variants in the CTNS gene Pathophysiologically, impaired lysosomal cystine transport leads to the progressive intracellular aggregation of pathognomonic needle-shaped cystine crystals isolated within ocular tissues, primarily the corneal stroma and conjunctiva Affected individuals commonly present with severe photophobia...

Unlike the classic infantile and juvenile forms, this mild phenotype typically presents in middle adulthood and spares renal and other systemic organ systems

Pathophysiologically, impaired lysosomal cystine transport leads to the progressive intracellular aggregation of pathognomonic needle-shaped cystine crystals isolated within ocular tissues, primarily the corneal stroma and conjunctiva

Affected individuals commonly present with severe photophobia, ocular discomfort, blepharospasm, and recurrent corneal erosions, which can progressively compromise visual acuity if left unmanaged