Because virtually all cells and tissues are affected by cystinosis, all of the body’s organs and systems are impacted. The eyes and the kidneys are most affected1, making opthalmic issues, including pain and vision impairment, a significant concern for patients.
In cystinosis, cystine crystals accumulate in all parts of the eye including the cornea, conjunctiva, iris, and retina.1,2 Over time, the buildup of cystine crystals affects all layers of the cornea.2,3
If left untreated, cystine crystals accumulate in all layers of the corner over time.
With appropriate treatment, corneal cystine crystal accumulation can be managed.
Due to cornea avascularity, oral medications do not affect corneal cystine crystal accumulation.2 Cystine-depleting eye drops are needed to reduce crystal accumulation in the cornea.
Cystine crystal buildup in the eyes begins soon after birth and continues throughout a patient’s life. While corneal cystine crystal accumulation can cause painful symptoms and vision impairment, patients can be asymptomatic during the early stages of the disease.
The symptom most patients notice first is photophobia, which may begin by age 3 or even earlier. Generally, photophobia is universal after the first decade of life. As the disease progresses, more ocular symptoms appear.
Photophobia can rapidly impair patients’ quality of life by interfering with their ability to carry out daily functions.
Given that photophobia is subjective, the degree of photophobia may be difficult to assess accurately. Self- and clinician-assessed evaluations of photophobia can be done using the grading scale below, which allows for comparison of the two scores.
Encourage your patients to assess their photophobia and other symptoms at home every 6 months or so by using the Photophobia Tracker and Eye Symptoms Tracker. Patients can then bring these tools with them to their appointments, allowing you to develop and modify treatment plans based on their needs.
Photophobia and Eye Symptoms TrackerIn addition to photophobia, patients may also develop other complications related to the ongoing accumulation of cystine crystals in the cornea, including the following:6
Treating corneal cystine crystal accumulation is critical. As more and more cystine crystals accumulate in the cornea, serious complications may develop.
REFERENCES: 1. Liang H et al. Br J Ophthalmol. 2021;105(5):608-613. 2. Tsilou E et al. Surv Ophthalmol. 2007;52(1):97-105. 3. Pinxten A-M et al. Ophthalmol Ther. 2017;6(1):93-104. 4. Ariceta G et al; Grupo T-CiS.bcn. Nefrologia. 2015;35(3):304-321. 5. Elmonem MA et al. Orphanet J Rare Dis. 2016;11:47. doi:10.1186/s13023-016-0426-y. 6. Shams F et al. Clin Ophthalmol. 2014;8:2077-2084.
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The Cystinosis Eye Care Specialist Directory aims to connect patients with healthcare professionals knowledgeable about ocular care in cystinosis.
Recordati Rare Diseases created this physician directory to help patients and caregivers find a healthcare professional that fits their needs. Patients can access the directory through cystinosisinfocus.com.
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