Managing Corneal Cystine Crystals in Cystinosis

Early Diagnosis is Crucial

Ocular symptoms of cystinosis may manifest in infancy, and may lead to irreversible damage over time. As part of an integrated treatment plan, continuous symptom monitoring and management are vital in helping prevent vision complications as patients mature.

The following information provides details on this rare disease, as well as clinical approaches to managing the ocular symptoms of cystinosis.

Begin symptom management and monitoring early.

Timely Treatment

Learn about effects  of cystinosis on the cornea.

Corneal Effects

Find helpful tools  for care coordination.

Ongoing Care

A rare, complex condition

Cystinosis affects multiple organs and systems, with cystine continuously accumulating in lysosomes, eventually forming crystals in cells throughout the body of affected patients.¹ Generally diagnosed early in life, patients typically present with severe kidney manifestations.^1,2 The kidneys and eyes are the most affected organs.¹

Ocular Symptoms

Lysosomal storage disease resulting in cystine accumulation in multiple organs¹

Cystinosis is caused by mutations in the CTNS gene that encodes for a cystine transporter^3,4:

CTNS mutations result in absent or defective cystinosin, a lysosomal cystine transporter^4,5
Impaired transportation results in accumulation of cystine in lysosomes^1,3
This cystine accumulation leads to cystine crystal formation within lysosomes in multiple organs and tissues^1,3

Identifying Cystinosis

Cystine accumulation leads to significant health complications, tissue damage, and progressive organ dysfunction^1,6

Over time, cystine crystals accumulate in cells throughout the body, eventually leading to symptoms in multiple organs:^1,6,7

Eyes and the kidneys are the organs most affected¹
Crystals may affect all parts of the eye^8-10, including:
- Cornea
- Conjunctiva
- Iris
- Retina, which includes the macula and optic nerve

Photograph of three doctors, one holding stethoscope

A well-aligned treatment plan

Cystinosis patients require a multidisciplinary approach to treatment. Bringing together a number of specialists to address and treat symptoms is essential for:

Delivering high-quality clinical care
Optimizing the patient experience for better medication adherence
Mitigating complications, including vision loss

Coordination of Care

REFERENCES: 1. Cystinosis. National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/cystinosis/?filter=ovr-ds-resources. Updated August 1, 2022. Accessed February 8, 2023. 2. Elmonem MA et al. Orphanet J Rare Dis. 2016;11:47. doi:10.1186/s13023-016-0426-y. 3. Wilmer MJ et al. Pediatr Nephrol. 2011;26(2):205-215. 4. Besouw MTP, Levtchenko EN. Improving the prognosis of nephropathic cystinosis. Int J Nephrol Renovasc Dis. 2014;7:297-302. 5. Nesterova N, Gahl WA. Pediatr Nephrol. 2013;28(1):51-59. 6. Gahl WA et al. N Engl J Med. 2002;347(2):111-121. 7. Bäumner S, Weber LT. Front Pediatr. 2018;6:58. doi:10.3389/fped.2018.00058. 8. Liang H et al. Br J Ophthalmol. 2021;105(5):608-613. 9. Tsilou E et al. Surv Ophthalmol. 2007;52(1):97-105. 10. Bayram-Suverza M et al. Indian J Ophthalmol. 2022;70(7):2636-2638.

HCP Directory Form

The Cystinosis Eye Care Specialist Directory Participation Form

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.

If you are a healthcare professional experienced in treatment and management of ocular manifestations of cystinosis and would like to be a part of the Cystinosis Eye Care Specialist Directory, please complete this enrollment form. HCPs will be listed in the directory for a maximum of two years, with the ability to opt-out at any time. If you have questions, please contact us at locator@cystinosisinfocus.com.

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Managing Corneal Cystine Crystals in Cystinosis

Early Diagnosis is Crucial

A rare, complex condition

Lysosomal storage disease resulting in cystine accumulation in multiple organs1

Cystine accumulation leads to significant health complications, tissue damage, and progressive organ dysfunction1,6

A well-aligned treatment plan

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HCP Directory Form

The Cystinosis Eye Care Specialist Directory Participation Form

Lysosomal storage disease resulting in cystine accumulation in multiple organs¹

Cystine accumulation leads to significant health complications, tissue damage, and progressive organ dysfunction^1,6