Ophthalmologic Genetics Services

At Cedars-Sinai, innovative treatments are performed and research is being conducted to correct inherited ophthalmologic conditions, such as:

  • Keratoconus - A type of corneal dystrophy in which the cornea gets progressively thinner. Between five and 14 percent of those who have the condition have a family history of kertoconus. It starts with the thinning of the middle of the cornea, then slowly bulges outward to form a rounded cone shape. This produces moderate to severe distortion (astigmatism) and blurriness (nearsightedness) of vision.
  • Other corneal dystrophies - Disorders in which one or more parts of the cornea loses normal clarity due to a buildup of cloudy material. These diseases are usually inherited, affect both eyes equally, are not caused by outside factors (such as injury or diet), progress slowly and usually occur in otherwise healthy people. Of the more than 20 types, some of the most common corneal dystrophies include Fuchs' dystrophy, lattice dystrophy and map-dot-fingerprint dystrophy.

Treatment of Keratoconus

Keratoconus usually affects both eyes. At first, people can correct their vision with eyeglasses. But as the astigmatism worsens, they must rely on specially fitted contact lenses to improve vision. Several treatment options are available for persons with keratoconus, including:

  • Rigid contact lenses, which can give high quality vision for many patients for many years with little risk.
  • INTACS® prescription lenses, which are implanted in the eye
  • Cornea transplants, which is the best option for patients who are contact lens intolerant. Because the cornea is avascular, this procedure is highly successful (96 to 98 percent success rate) in keratoconus.

Research into Genetic Ophthalmologic Conditions

At Cedars-Sinai, one of the world's largest clinical studies to determine genetic factors in keratoconus is currently underway. Cedars-Sinai is also participating in a clinical trial to determine the effectiveness of Excimer PRK in patients with early keratoconus. To qualify for this study, participants must:

  • Be older than 40 years of age
  • Have had no change in refractive error for five years,
  • Have no slit-lamp signs of keratoconus
  • Be contact lens intolerant
  • Understand that you are at increased risk of scarring
  • Understand there is no guarantee of improved vision after surgery and that a cornea transplant may be needed after surgery.

This study is being performed based on preliminary results from Europe suggesting that this may be a reasonable treatment for patients with early keratoconus. Our clinical studies suggest that it is unlikely that keratoconus will progress after age 40. There are increased risks associated with this procedure and patients who are not prepared to assume these risks should not enroll in this study.