Eye Appointment and Care

Overview

Having cystinosis and getting appropriate eye care is key to successfully managing ocular symptoms.

Looking for an eye care specialist

When you’re selecting an eye care specialist, be sure to inquire if the doctor has experience with the ocular symptoms of cystinosis. The treating nephrologist may also be able to provide a referral.

Appointment Preparation

Choosing an experienced specialist

Look for a doctor that specializes in diseases of the eye and one that is trained to treat conditions such as ocular symptoms of cystinosis.

An ophthalmologist is a medical doctor who is licensed to diagnose and treat eye diseases, and perform eye surgery. Some ophthalmologists specialize in a specific area of surgical or medical eye care.
A cornea specialist is a medical doctor focused on the subspecialty that involves the diagnosis and management of diseases of the cornea, as well as ocular manifestations of systemic diseases.
An optometrist is a doctor of optometry who provides primary vision care.

Things to discuss with the doctor

Hands of a doctor and patient shown, while they talk

Some key questions to ask:

What is the current measurement of corneal cystine crystal accumulation?
Knowing this information at the first and each follow-up appointment is important.

Has there been a change in the amount of cystine crystals since the last appointment?
If it’s the first visit, get a baseline measurement of crystal buildup. Then, at the next visit, ask about the change in the amount of cystine crystals since the last appointment.

Are there other eye conditions present that may or may not be related to cystinosis?
Discuss any changes in eyesight that may be caused by other factors such as cataracts, retinopathy (a disease of the retina), or glaucoma (increased pressure on the eye).

Remember to make an appointment for the next visit before leaving the appointment, since schedules can fill up quickly.

DOWNLOAD Doctor discussion guide

THINGS TO BRING TO YOUR APPOINTMENT

Bring any eye drops you are using and ask your doctor for administration tips.
Track symptoms with our Eye Symptom Tracker and bring it to the appointment.
Prepare information on family medical history.
Include a list of current medications, as well as the dose.
Prioritize forms required by schools or other organizations to access special services.

During and after each appointment, confirm that up-to-date results of eye exams, other assessments, and any treatment changes will be sent to the treating nephrologist.

Coordination of care between all doctors helps ensure the best possible treatment.

During Your Appointment

Visiting the eye care specialist

Having regular visits with an experienced eye care specialist who is knowledgeable about managing the ocular symptoms of cystinosis is important for keeping the eyes and eyesight as healthy as possible.

During a cystinosis medical eye exam, the following assessments may be performed:

A review of medical history
A vision check
Any changes in medical history since the last exam
A tonometry test to measure the pressure in the eyes

Ask the doctor for a printout of your progress notes or a letter to share with your healthcare team or primary care provider.

Measuring success: tracking crystal density over time

As part of the evaluation process, the doctor will assess the progression of corneal cystine crystal accumulation to monitor the severity of buildup.

Doctors use a special instrument called a slit lamp to measure the amount of cystine crystals in the cornea. A slit lamp exam:

Measures the density of cystine crystals in the cornea, conjunctiva, and iris
Examines the back of the eye, including the retina and optic nerve, to check for crystals
Checks for certain complications related to the buildup of cystine crystals

Ask the doctor for a print out of your progress notes or a letter to share with your healthcare team or primary care provider.

DOWNLOAD EYE SYMPTOM TRACKER

DID YOU KNOW?

A slit lamp focuses a high-intensity light beam on the cornea and the cystine crystals inside. The magnified crystals can be seen in photographs that are taken during the exam.

See What happens

Watch this video presented by an ophthalmologist who explains what to expect at a cystinosis medical eye exam.

Karolinne Maia Rocha MD, PhD

Director, Cornea & Refractive Surgery

Storm Eye Institute Medical University of South Carolina

What to expect during a slit lamp exam

The slit lamp exam is noninvasive, meaning that nothing touches or penetrates the eye. The instrument allows the doctor to view and photograph the cornea and other areas of the eye using a very bright light.

How the exam works

Before the exam, the doctor uses special eyedrops to dilate, or enlarge, the pupils of the eyes. These eyedrops keep the pupils from getting smaller when the light shines into the eyes. Once the pupils are dilated, the doctor looks through the microscope at the eye. The slit lamp then focuses a narrow, high-intensity beam of light towards the eye and takes photographs of the crystals in the cornea and other areas of the eye.

Doctors may use other imaging technologies to view and assess the cystine crystals in your corneas, or to evaluate and monitor changes in other areas of your eyes caused by cystinosis:

IVCM: In vivo confocal microscopy. A noninvasive tool that allows the detection of changes in the ocular surface layer and corneal nerves.
AS-OCT: Anterior segment optical coherence tomography. An imaging method that provides information about the cornea, anterior chamber angle, iris, and crystalline lens.

Regular appointments every 6 months are recommended for patients with cystinosis.

DOWNLOAD EYE SYMPTOM TRACKER

Post Exam Tips

Since pupils will not return to their normal state for several hours, patients should schedule the exam for the end of the day to avoid impaired vision during regular work or school hours.

Don’t forget sunglasses

Bring sunglasses to help with glare and sensitivity after the exam, and arrange for transportation home after the exam.