Genetic Eye Disease

Genetic Eye Disease Defined

Many eye disorders are genetic and can be hereditary. It is possible to test someone’s genes to look for changes that can cause eye disease. These changes to genes are called mutations. 

Genetic Eye Disease

Reasons to Get Genetically Tested

You should discuss the pros and cons of genetic testing with your eye doctor and the genetics doctor before deciding whether to have the test done.


  • Establishing a definite diagnosis that might not be possible otherwise
  • Ruling out a condition that your eye doctor was considering since some can look very much like each other
  • Identifying people who might be eligible to participate in a clinical trial, or a new treatment
  • Helping to determine how the condition will progress since different gene mutations affect people differently

    Possible Outcomes

    • Sometimes, nothing is found with genetic testing
    • Genetic testing may confirm that a person has a specific disease that they were hoping they did not have and that can cause distress
    • Genetic testing may confirm that a parent has passed the disease to an offspring and that can be distressing

    Many eye disorders are hereditary and can be passed from one or both parents to an offspring. More common hereditary disorders include but are not limited to:

    • Achromatopsia
    • Albinism — Oculocutaneous
    • Albinism — Ocular
    • Aniridia
    • Autosomal Dominant Optic Atrophy
    • Best Disease
    • Cataracts (Usually the types seen in children)
    • Choroideremia
    • Color Vision Deficiency (commonly called “color blindness”)
    • Corneal Dystrophy
    • Cone-Rod Dystrophy
    • Doyne Honeycomb Dystrophy (Autosomal Dominant Drusen)
    • Glacuoma (Usually the types seen in children)
    • Juvenile X-Linked Retinoschisis
    • Leber Hereditary Optic Neuropathy
    • Leber Congenital Amaurosis (a type of retinitis pigmentosa)
    • Pattern Dystrophy
    • Retinitis Pigmentosa
    • Stargardt Juvenile Macular Dystrophy