Genetic Eye Disease

Understanding Genetic Eye Disease

Many eye disorders are genetic and are passed on from parents to their children. It is possible to test someone’s genes to look for changes that can cause eye disease through genetic testing. These changes to genes are called mutations. The genetic testing procedure includes collecting a blood sample from the patient and sending it to the laboratory to be analyzed. Once the testing is complete, the results are returned to the doctor and then discussed with the patient or family.  

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 testing performed. Genetic testing can:

  • Establish a definite diagnosis that might not be possible without testing
  • Rule out a condition your eye doctor suspects you may have
  • Identify people who might be eligible to participate in a clinical trial, or a new treatment 
  • Help determine how the condition will progress since different gene mutations affect people differently. 

Possible Outcomes

  • Nothing may be found with genetic testing

  • Genetic testing may confirm the patient has a specific eye disease, and this can cause distress

  • Genetic testing may confirm a parent has passed a disease their child and this can be distressing

Many eye disorders are hereditary and can be passed from one or both parents to an offspring. Some common hereditary disorders include: 

  • Achromatopsia 

  • Albinism — Oculocutaneous 

  • Albinism — Ocular 

  • Aniridia 

  • Autosomal Dominant Optic Atrophy 

  • Best Disease 

  • Cataracts (Usually the types seen in children) 

  • Chloridemia 

  • Color Vision Deficiency (not really color “blindness” but some people call it that) 

  • Corneal Dystrophy 

  • Cone-Rod Dystrophy 

  • Doyne Honeycomb Dystrophy (Autosomal Dominant Drusen) 

  • Glaucoma (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 

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