Nephropathic Cystinosis
Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by the abnormal accumulation of the amino acid cystine within cells. This accumulation is…
Benign cystinosis with corneal cystine crystal accumulation
Benign cystinosis with corneal cystine crystal accumulation is a rare genetic disorder characterized by the deposition of cystine crystals in the cornea. Unlike nephropathic cystinosis,…