Symptom 4: Sensitivity to Light – A World Too Bright
Another characteristic symptom of cystinosis is photophobia, or sensitivity to light. This sensitivity can manifest in various ways, such as squinting, excessive blinking, or even closing the eyes in bright light. These signs often point to the presence of cystine crystals in the eyes, which can make everyday tasks like reading or playing outside uncomfortable and even painful.
The accumulation of cystine crystals in the cornea—the transparent front part of the eye—is a unique feature of cystinosis. These crystals can disrupt the normal functioning of the eye and cause discomfort when exposed to light. The severity of this symptom can range from mild discomfort in bright light to intense pain, making it a significant concern for patients with cystinosis.
Photophobia can significantly impact a person’s quality of life. It can make outdoor activities challenging and affect academic performance in children who may struggle to read or write due to the discomfort. Hence, recognizing and addressing this symptom is crucial.
Eye drops containing cysteamine, an aminothiol, are often used to treat this symptom. These eye drops help to reduce the concentration of cystine in the cornea and provide relief from photophobia.
Sensitivity to light is a common and noticeable symptom of cystinosis. With appropriate management, patients can alleviate this discomfort and lead a more comfortable life. (4)
