Children's Hospital Colorado
Genetics and Inherited Metabolic Diseases
Genetics and Inherited Metabolic Diseases

About the Ocular Genetics Clinic

The Ocular Genetics Clinic at Children’s Hospital Colorado is a state-of-the-art multispecialty clinic for children and adults with eye conditions that may have genetic causes. Conditions include those found at birth affecting parts of the eye or abnormal function of the retina (the light-sensing area at the back of the eye). 

A girl with long brown hair and glasses smiles at the camera.

Genetic eye disorders in children

Genetic eye disorders can run in families, or they can be unique to one family member. There are hundreds of eye disorders that have genetic causes. While we may not be able to identify a specific genetic cause in every patient, our knowledge is constantly improving. The Ocular Genetics Clinic is advancing the understanding and treatment of genetic eye conditions.

What to expect at the Ocular Genetics Clinic

A medical geneticist and genetic counselor, both experts in the genetic causes of eye disorders, lead the Ocular Genetics Clinic. Before visiting the Clinic, your doctor will perform a careful eye exam, which is essential in determining the most appropriate genetic testing and counseling for each patient. Evaluations in the Clinic identify genetic causes of specific eye conditions. A genetic diagnosis may provide a patient and his or her family with more information about:

  • The patient’s prognosis
  • Associated medical or developmental problems (if any) 
  • The likelihood of other family members developing the same disorder

New families visiting the Ocular Genetics Clinic can expect a multi-step evaluation, which usually extends past the initial appointment. During this process, families will:

  • Meet with the geneticist and genetic counselor to review the patient’s medical history, the family history and undergo a brief physical exam
  • Learn about what is known (and unknown) about the genetic causes of the patient’s particular eye condition
  • Discuss options for genetic testing or other studies to help confirm the diagnosis
  • Review test results and what they mean for the patient and his or her family members
  • Explore community resources and research studies that may be available

Why choose Children’s Colorado for genetic evaluations?

Children’s Colorado has the only center for pediatric clinical genetics in the Rocky Mountain Region, serving families from Colorado, Wyoming and surrounding states. Created in 2007 by the Clinical Genetics and Ophthalmology departments, experts at the Ocular Genetics Clinic work closely with pediatric and adult eye specialists to diagnose many conditions that affect the eye. Together with the University of Colorado Hospital, University of Colorado Denver School of Medicine and Rocky Mountain Lions Eye Institute on the Anschutz Medical Campus, we provide comprehensive next-generation ocular genetic services.

Specific conditions evaluated

Eye disorders should first be diagnosed by an eye specialist. At the Ocular Genetics Clinic, we see patients who have been diagnosed with:

  • Retinitis pigmentosa and other rod and cone dystrophies
  • Leber congenital amaurosis
  • Inherited macular dystrophies, such as Stargardt disease and Best disease
  • Vascular retinopathies, including FEVR and Norrie disease
  • Coloboma
  • Aniridia
  • Anterior segment dysgenesis, including Axenfeld-Rieger anomaly and Peters anomaly
  • Congenital cataract
  • High refractive error
  • Optic neuropathy/atrophy
  • Nystagmus
  • Multisystem disorders that have primary eye findings, such as:
    • Ocular albinism and oculocutaneous albinism
    • Usher syndrome
    • Bardet-Biedl syndrome 
    • Stickler syndrome

Services we offer at Children's Colorado

  • Comprehensive clinical evaluation
  • Diagnostic genetic testing
  • Genetic counseling, including discussion of inheritance patterns and recurrence risks
  • Research and clinical trials
  • Related specialists and community resources

Contact us

Genetics at Anschutz Medical Campus
Phone: 303-724-2370
Fax: 720-777-7322


PRODWEBSERVER2