Preparing for Your Child’s Appointment with the Ophthalmic Genetics Clinic

To ensure your child’s appointment with the Ophthalmic Genetics Clinic goes as smoothly as possible, please review the following information about what to do and what to expect before, during and after your child's visit.

Before your visit

When you schedule and plan your child’s visit, please:

  • Ask the scheduler to estimate the initial appointment length and whether you need to schedule two appointments. Your first appointment will be very thorough, so knowing about how long it will take will help you prepare and schedule appointment times that will work for you.
  • Ask if you need a referral from your insurance company and obtain it in advance of your appointment.
  • Bring your child’s insurance card with you, as well as the contact information for his primary care provider.
  • Bring a copy of all medical records and tests your child has had, or ask your child’s doctor to send them to our office. It is best to receive these in advance of the appointment if possible. 
  • Bring notes about important details of your immediate and extended family’s medical history.
  • Bring a pair of sunglasses to protect your child’s eyes from light sensitivity following the visit; your child’s pupils may remain dilated from special drops for six to 24 hours after the appointment.
  • For ease and accuracy, bring all of your child’s medicines with you in a bag; the doctor or nurse will need to see the labels.
  • If your child is older, please be sure they’re not wearing any eye make-up.
  • Bring comfort items or a snack for your child, to make a long visit easier.

What to expect during your clinic visit

Your child’s initial evaluation will consist of the following steps and tests. These may take place during your first appointment, or they may be split up over multiple appointments.

These tests offer important information about the function of your child’s eyes that help us diagnose and treat their condition.

  • A thorough health history and pedigree drawing (family history): Your family will meet with the genetic counselor and discuss your family’s medical history and vision problems among relatives. It helps if you talk to extended family members before the appointment. The genetic counselor and pediatric eye specialist will review this history and talk about the possible genetic origin of your child’s eye disease.
  • Eye exam: An ophthalmic technician will place drops into your child’s eye to dilate your child’s pupils. This will help us examine the inside and back of the eye to evaluate vision and ocular pressure. Your child's ophthalmologist (eye doctor) will then perform an exam of the entire eye and inspect the retina and macula.
  • Highly specialized diagnostic testing and eye imaging: A variety of sophisticated, multimodal optical imaging techniques and electrophysiological tests can help our specialists evaluate retinal, optic nerve, and visual pathway function. All of this information is crucial in assessing a genetic eye disease, determining its severity, and determining the best treatment options for your child.

    These tests might include a visual field test, visual electrophysiological tests (ERG or VEP), specialized reflectance and autofluorescence imaging, optical coherence tomography (OCT) and more.
  • Genetic tests and genetic counseling: Depending on the results gathered from your family history and specialized tests, we may recommend your child have a genetic test to confirm the diagnosis.

    A phlebotomist may take a blood sample from your child. Our comprehensive genetic testing may include: chromosomal microarray analysis, exome sequencing, gene panels, and/or single gene testing. Results from genetic tests may take up to a few months to come back.

    Our dedicated genetic counselor will work with your family to organize genetic testing, explain results, and identify any risks to other family members. Ongoing support from genetic counselors is an important part of the care available to you at the Ophthalmic Genetics Clinic.

The information from specialized ocular imaging and eye tests, combined with a confirmation of a genetic diagnosis, can help our team map your child’s visual future more accurately

A detailed and accurate diagnosis is an important first step in determining the best treatment options available for your child.

Next Steps