Children and adolescents with genetic diseases of the eye receive expert diagnosis and specialized care at the Ophthalmic Genetics Clinic at Children’s Hospital of Philadelphia (CHOP).

We provide advanced imaging, genetic counseling, patient-family education, and breakthrough treatment options for many inherited eye disorders, including isolated inherited diseases of the eye and genetic syndromes that affect the eye and other parts of the body.

The Ophthalmic Genetics Clinic is led by Bart Leroy, MD, and Tomas Aleman, MD, world-recognized researchers and clinicians who specialize in the diagnosis and treatment of genetic eye diseases. They were instrumental in developing gene therapy for children with one form of Leber’s congenital amaurosis (LCA), an inherited form of blindness.

Conditions we treat

Many genes are involved in the complex process of normal eye development, which happens during the first trimester of pregnancy. When mistakes (called mutations) occur in these genes, a serious eye disease can result. Your doctor may call this inherited ocular disease.

CHOP’s Ophthalmic Genetics Clinic sees children from around the world who have genetic eye conditions, including:

• Ocular developmental problems: These conditions occur when the eye doesn’t develop properly, resulting in a small, underdeveloped eye (microphthalmia), a missing eye (anophthalmia), or other disorders related to the development of the structure of the eye.
• Retinal degenerations or dystrophies: This category of eye problems includes disease that affect the different parts of the retina, such as Leber congenital amaurosis (LCA), Stargardt disease, retinitis pigmentosa and choroideremia, among others.
• Retinal dysfunctions: They include a large group of conditions in which the disease affects the function of the eye but won’t lead to blindness, such as congenital stationary night blindness and achromatopsia (true color blindness).
• Genetic syndromes and disorders that affect the eye: They include a variety of genetic syndromes that affect multiple body systems — such as the kidney, brain or muscular system — that can also affect the eyes (e.g., albinism, Joubert syndrome).

While these genetic conditions can impact all parts of the eye, the majority (80% to 90%) of people with inherited ocular disease have a problem with their retina, the light-sensitive tissue that lines the back of the eye.

What we do

At the Ophthalmic Genetics Clinic, your child will receive a highly detailed, comprehensive evaluation. Experts in pediatric ophthalmology, genetics and genomic diagnostics work together using the latest screening methods, including diagnostic imaging technologies and gene testing, to identify the cause of your child’s eye disease.

As a center of research and leading-edge treatments, including gene therapy, CHOP’s Ophthalmic Genetics Clinic offers the latest testing and techniques that allow doctors to:

• Diagnose and monitor the progression of the most challenging and complex genetic eye diseases
• Find the specific changes in genes that may be the cause of your child’s disease, and how those changes might impact other family members
• Anticipate progression and future vision problems
• Create an individualized plan for management and treatment of your child’s disease with the best options available, including surgery and innovative medical therapies to target the specific part of the eye that is affected
• Provide patient-family education resources and services to support your family, including individualized care from dedicated genetic counselors

Our team is actively involved in research that is exploring potential new treatment options for inherited ocular disease.

Helping you understand your child’s diagnosis

At the Ophthalmic Genetics Clinic, we place a strong emphasis on making sure you feel comfortable and well-informed about your child’s diagnosis. This family-centered model of care means that we will sit down with your family and spend as much time as you need to answer all of your questions and come up with a plan that will work for your family. We will:

• Explain every aspect of the disease in easy-to-understand terms
• Talk you through any potential issues or challenges your child may face as part of their diagnosis
• Help you understand the next steps in the management of your child’s condition and what to expect as far as how the disease may progress or change
• Offer strategies and supportive resources that will help your child navigate their life and manage any related challenges
• Set up additional appointments for genetic counseling or other services needed