Topic: visual electrophysiology

Cystinosis is a rare, childhood lysosomal storage disorder caused by mutations in cystinosin, the transporter responsible for cystine from the lysosome to the cytosol. In cystinosis, mutated cystinosin causes cystine crystal accumulation and cell death. Photophobia, or abnormal sensitivity to light, is an early symptom of the disease and can be debilitating for patients. Historically, this photophobia has been attributed to ocular corneal cystine crystal accumulation, but eyedrops prescribed to disrupt these crystals do not fully alleviate symptoms. Furthermore, photophobia is known to have a