Eye Treatment Considerations with Cystinosis

Overview

Early detection and consistent management are critical in slowing the progression of corneal crystal accumulation associated with cystinosis. Treatment adherence, patient education, and ongoing collaboration among the specialists on the healthcare team may improve overall treatment outcomes.

Patient Adherence

Improving Adherence^1,2

Oral treatment^3-5

Should be initiated as soon as possible and continued for life
Due to the cornea’s avascularity, oral treatment does not address corneal cystine crystals

Topical ophthalmic treatment with cystine-depleting eye drops³

Only topical treatment can reduce corneal cystine crystal accumulation³
If you have a patient with cystinosis, discover an FDA-Approved treatment option for corneal cystine crystals.

Learn More

Patient Education

Strategies to improve patient understanding

Because cystinosis is a chronic and complex disorder, patient education is critical and can help caregivers and families manage the challenges they may experience.

Potential challenges with administration of eye drops:

Not administering the eye drops correctly
Side effects
Not adhering to dosage frequency
Not adhering to treatment because they do not see or understand a benefit

Strategies to Improve Adherence

Adherence Issue	Adherence Strategies
Not administering the eye drop correctly	Review technique to ensure proper administration Educate on the correct eye drop administration technique
Side effects	Manage expectations and educate on potential side effects Educate on benefits of treatment and potential consequences of not treating the eye
Remembering to administer eye drops	Suggest using reminder techniques such as alarms or text messages
Frequency of administration	Discuss or determine the best time for the patient to administer eye drops
Not seeing or understanding the benefits of treatment	Educate on the progression of crystal accumulation and potential long-term consequences Discuss long-term benefits of using eye drops Suggest keeping track of symptoms Establish a benchmark to visualize and measure progress

Tracking Progress

Assessing Disease Progression

Periodic slit-lamp exams are useful for assessing the density of corneal cystine crystals as the disease progresses. Cystine crystals can be tracked over time using a corneal cystine crystal score (CCCS) that ranges from 0 (clear) to 3.00 (packed with crystals), as shown in the images below.^*,†

1 y.o. 

CCCS = 0.25

2 y.o. 

CCCS = 0.25

7 y.o. 

CCCS = 2.75

12 y.o. 

CCCS = 3.00

>20 y.o. 

CCCS = 3.00

Images adapted from Gahl et al 2000, with permission from the publisher.

^*Photos from a slit-lamp exam are compared to a standard library of National Institutes of Health (NIH) photos of corneas containing cystine crystals at different densities. (For more information, see Gahl 2000.)

^†Other methods of quantifying corneal cystine crystals – in vivo confocal microscopy (IVCM) and anterior-segment optical coherence tomography (AS-OCT) – may provide more precise assessments and additional clinically relevant information.

Coordinating Care

Cystinosis Treatment Team

Cystinosis affects multiple organs and systems requiring 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

Download this coordination of care resource for your patients.

Coordination of Care Resource

REFERENCES: 1. Elmonem MA et al. Orphanet J Rare Dis. 2016;11:47. doi:10.1186/s13023-016-0426-y. 2. Nesterova G, Gahl WA. Infantile Nephropathic Cystinosis Standards of Care: A Reference for People With Infantile Nephropathic Cystinosis, Their Families, and Medical Team. Cystinosis Research Network.
https://cystinosis.org/wp-content/uploads/2019/01/CRN_StandardsOfCare_FINAL-1.pdf. Accessed February 10, 2023. 3. Ariceta G et al; Grupo T-CiS.bcn. Nefrologia. 2015;35(3):304-321. 4. Emma F et al. Nephrol Dial Transplant. 2014;29(suppl 4):iv87-iv94. 5. Nesterova N, Gahl WA. Pediatr Nephrol. 2013;28(1):51-59.

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.

Asterisk (*) indicates a required field.

"*" indicates required fields

Your Specialty (check one)*

Pediatric Ophthalmology

General Ophthalmology

Optometry

Other Eye Care Specialist

Experience with cystinosis*

Yes

No, but I am interested in cystinosis

Facility/Practice Name*

Physician Name*

Physician NPI*

Facility/Practice Address*

City*

State*

ZIP Code*

Contact Phone*

Contact Email*

Contact Phone
(to be displayed in the directory)*

Contact Email
(to be displayed in the directory)*

Website Address
(to be displayed in the directory)*

By signing this form, I acknowledge that:

I am a healthcare provider, or an authorized representative of the facility or practice listed on the form above.
I understand that this enrollment form offers the facility, practice, or provider listed above, the opportunity to be included in a provider directory.
Further, I agree to be contacted by a Recordati Rare Diseases representative by mail, fax, e-mail or telephone for the purposes of reviewing and validating the submitted registration information.
There will be no exchange of fees or remuneration of any kind in exchange for registration or participation in the directory.
There is no guarantee to obtain patients through being listed in this directory. This directory is not a referral service.
Recordati Rare Diseases reserves the right to not list information in the directory.
Inclusion of a healthcare professional in this directory does not represent an endorsement by or a recommendation from Recordati Rare Diseases.
I can update my profile or opt-out of the directory at any time by contacting Recordati Rare Diseases at: locator@cystinosisinfocus.com.

We take the security of your information seriously. Please read our Privacy Policy and Terms of Use.

Eye Treatment Considerations