Ocular Genetics

Alex V. Levin, MD, MHSc, Chief, Pediatric Ophthalmology and Ocular Genetics Service

Genetic eye disease is one of the leading causes of blindness and includes disorders such as retinitis pigmentosa, Stargardt disease, hereditary optic neuropathy, pediatric cataracts, pediatric glaucoma, albinism and others. The goal of the Wills Eye ocular genetics physicians is to ensure that a patient will fully understand and have a clear pathway for the next steps in the management of their genetic eye disease. We see not only patients who have ocular genetic disease but also patients with a wide variety of genetic disorders, which affect other areas of the body along with the eye (e.g. neurofibromatosis, mitochondrial disorders, Marfan syndrome).

The specialists and staff spend as much time as necessary with a patient to discuss all aspects of the patient’s genetic eye disease. As part of the treatments offered, a patient may have to undergo other diagnostic procedures, including:

  • Tests performed in our Diagnostic Center
  • Photographs taken
  • Meetings with an Ocular Genetic Counselor
  • A discussion with a Low Vision Resource Advisor

 

Clinic Hours:

Monday   1:00 p.m. - 2:30 p.m. Monthly (2nd and 4th Monday)
Thursday 8:00 a.m. - 2:00 p.m. Weekly

Location:

Wills Eye Hospital
840 Walnut Street, Suite 1210
Philadelphia, PA 19107
Phone: (215) 928-3240
Fax: (215) 928-3983
Email: Pediatrics@willseye.org
Chief: Alex V. Levin, MD, MHSc

Genetic Counselor: Jenina E. Capasso, MS, LGC

Current Fellow: Yu-Hung Lai, MD

  • What to Expect During Your Appointment at Wills Eye Ocular Genetics Service

    Wills Eye Ocular Genetics is located on the 12th floor, Suite 1210, in Pediatrics and Ocular Genetics.

    Parking

    Paid parking is available in our parking deck at 9th and Walnut Streets (entrances on 8th Street or 9th Street just south of Walnut Street, or on Walnut Street between 8th and 9th streets). A patient parking discount is available with validation in the clinic or on the 7th floor. We are also within walking distance of the Market East station at 12th and Market Streets and the PATCO High Speed line at 9th and Locust Streets.
    Maps, directions and parking

    Your Visit

    Please try to arrive 30 minutes before your scheduled appointment time to register and complete paperwork. Patients arriving late may need to be rescheduled for another day.

    *Please be aware that the Ocular Genetics clinic has a 4 month waiting-list. Failure to cancel in a timely manner may delay your rescheduled re-appointment for another 4 months and prevent another patient in need of care from being seen.

    If you are unable to make your appointment, please let us know NO LATER than 1 week beforehand.

    Wills is an academic teaching center. When you arrive, you may first meet with one of our trainees who will ask questions about the patient’s health history and conduct a preliminary eye examination. Wills is a teaching center. Your initial contact may be with a medical student, resident (full doctor now training to become an ophthalmologist) or a fellow (full ophthalmologist now training to be a pediatric ophthalmologist or ocular genetics specialist). This information will be shared with Dr. Levin, who will then meet with you, obtain additional information as needed and examine the patient. There may also be other observers present during the exam (i.e. nursing students, physician observers from abroad).

    Most patients will need eye drops to dilate the pupils, which take about 45 minutes to work. Dr. Levin and his colleagues will then examine the eyes again. Other things which may happen during your visit include:

    • Having specific tests performed in our Diagnostic Center
    • Having photographs taken of the patient
    • Meeting with our Ocular Genetic Counselor (Jenina Capasso)
    • Meeting with our Low Vision Resource Advisor (George Holiday)
    • Answering health-related questions about your family members to help us draw your family tree

    Because your visit to Wills Eye Ocular Genetics may require you to complete many different tasks, your appointment may take several hours, so please plan to be here for most (if not all) of the day. You may wish to bring food and/or drinks with you to your appointment. We want to ensure that we accomplish as much as possible so that you will have the most information about your/your child's eye problems. There may be periods of waiting for various steps in your visit to be completed. Please understand that we want to make sure you get all the time you need so that we may address your concerns. We do this with every patient. Despite our best efforts to reduce waiting to a minimum, we can never predict how long a visit will take or what emergencies may arise on a given day. Despite any waits you might experience, we are hopeful that you will leave feeling that you received complete care and our undivided attention.

    Other Things to Bring with You

    • A referral, if required by your insurance provider (Our Tax ID is 233065896)
    • Any relevant medical records that you have (see enclosed checklist)
    All required forms, which should be filled out BEFORE your visit

    If you have any questions prior to your appointment, please do not hesitate to call Jenina at 267-733-9681. We look forward to meeting you.

CLINICAL

We offer state of the art ophthalmic care, multidisciplinary diagnostic evaluation and testing for these rare conditions, genetic counseling, advanced gene testing, and access to upcoming treatments such as gene therapy, stem cell treatment and bionic chip implantation.

Through our newly established Ocular Genetics Consortium at Wills Eye Hospital, representatives from every ophthalmology subspecialty come together to ensure that all ocular needs of our patients are being met.

We work closely with several Clinical Geneticists in Philadelphia and New Jersey as well as others around the world to give our patients care not just for their eyes, but for all their bodies as a whole. Together we participate in comprehensive evaluation and management of the patient as well as joint research efforts.

Research

Research into better ways to diagnose and treat ocular genetic problems is also a major objective. We investigate a wide range of ocular genetic conditions in many ways ranging from bench laboratory studies to clinical studies.

Ongoing Research Projects (partial list)

  • Genetics of Coats Disease
  • Chromosomal microarray analysis for anterior segment ocular genetic disorders
  • Innovative approaches to gauge progression of Sturge-Weber syndrome
  • Understanding the role of the ABCA4 gene in genetic eye diseases
  • Genetic diagnosis in retinal dystrophies and genetic disorders of the anterior segment
  • Treatment of Macular Cysts in Retinal Dystrophies

 

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